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1  of vosoritide with placebo in children with achondroplasia.
2  genetic diseases such as Apert syndrome and achondroplasia.
3  of disorders including Apert's syndrome and achondroplasia.
4 asia suggest that activation of FGFR3 causes achondroplasia.
5  in fibroblasts of an individual affected by achondroplasia.
6 tyrosine kinase inhibitor in development for achondroplasia.
7 te Phase 2 studies in urothelial cancers and achondroplasia.
8 reat infants, children and young people with achondroplasia.
9  for management and care of individuals with achondroplasia.
10 efective skeletal growth in a mouse model of achondroplasia.
11 ht increase growth velocity in children with achondroplasia.
12 te these approaches in preclinical models of achondroplasia.
13  design of targeted molecular treatments for achondroplasia.
14 have yet to translate into the management of achondroplasia.
15 reatment to increase growth in children with achondroplasia.
16 oric dysplasia as well as in mouse models of achondroplasia.
17         There are no effective therapies for achondroplasia.
18 from 280 children (155 boys, 125 girls) with achondroplasia.
19 FR3 signaling in thanatophoric dysplasia and achondroplasia.
20 tide in children (5 to 14 years of age) with achondroplasia.
21 sights into the mechanism of pathogenesis in achondroplasia.
22 h factor receptor 3 (FGFR3) gene that causes achondroplasia.
23 ting mutations are the molecular etiology of achondroplasia.
24  including the most common form of dwarfism, achondroplasia.
25 auses dwarfism with features mimicking human achondroplasia.
26 actor receptor 3 (FGFR3) are responsible for achondroplasia (ACH) and related dwarfing conditions in
27 n skeletal diseases hypochondroplasia (HCH), achondroplasia (ACH) and thanatophoric dysplasia (TD).
28 pment, with specific FGFR3 mutations causing achondroplasia (Ach) and thanatophoric dysplasia (TD).
29  FGFR-3 has been shown to be responsible for achondroplasia (ACH) but it was not clear whether such m
30                                              Achondroplasia (ACH) is the most frequent form of dwarfi
31                                              Achondroplasia (ACH) is the prototype and most common of
32 ommon genetic form of short-limbed dwarfism, achondroplasia (ACH), as well as neonatal lethal forms,
33                             In subjects with Achondroplasia (Ach), CNP intracellular activity is supp
34                                              Achondroplasia (ACH), the most common form of dwarfism,
35                                              Achondroplasia (ACH), the most common genetic dwarfism i
36 ng the most common genetic form of dwarfism, achondroplasia (ACH).
37 the key challenges and optimal management of achondroplasia across each major life stage and sub-spec
38             Although the primary features of achondroplasia affect the skeleton, a multidisciplinary
39                  Establishing a diagnosis of achondroplasia allows families and clinicians to provide
40 sional facial scans from 43 individuals with achondroplasia and 8246 controls to calculate achondropl
41 nsible for the human developmental syndromes achondroplasia and acanthosis nigricans with Crouzon Syn
42 auses a number of genetic diseases including achondroplasia and cancer.
43 -for-age percentile curves for children with achondroplasia and explored the relation of BMI with its
44 lineate a potential therapeutic approach for achondroplasia and other FGFR3-related skeletal dysplasi
45 rs of chondrocytic growth, as exemplified by achondroplasia and related chondrodysplasias, which are
46 Beare-Stevenson Syndrome, hypochondroplasia, achondroplasia and SADDAN syndrome.
47 anced paternal age resulting in new cases of achondroplasia and suggests that factors influencing DNA
48 nd cranial base in human cases of homozygous achondroplasia and thanatophoric dysplasia as well as in
49          Activating mutations in FGFR3 cause achondroplasia and thanatophoric dysplasia, the most com
50 ible for human skeletal dysplasias including achondroplasia and the neonatal lethal syndromes thanato
51 ible for human skeletal dysplasias including achondroplasia and the neonatal lethal syndromes, Thanat
52  Apert syndrome (caused by FGFR2 mutations), achondroplasia, and thanatophoric dysplasia (FGFR3), and
53                                  People with achondroplasia are generally of normal intelligence.
54 change in height and weight in children with achondroplasia are unique in that there is no overlap in
55 extremes of a phenotypic spectrum and, using achondroplasia as an example, we introduce a syndrome-in
56 sms responsible for the clinical findings of achondroplasia as well as to develop possible new therap
57 ficacy of oral infigratinib in children with achondroplasia between the ages of 3 and 11 years.
58 c BMI curves are available for children with achondroplasia (birth to 16 y of age) for health surveil
59 se results, certain human disorders, such as achondroplasia, can be interpreted as gain-of-function m
60   This result indicates that pathogenesis in achondroplasia cannot be explained simply by a higher di
61                             More than 97% of achondroplasia cases are caused by one of two mutations
62                                          The achondroplasia class of chondrodysplasias comprises the
63 fective inhibitor of FGFR3 is unmet, leaving achondroplasia currently incurable.
64 onsible for poor endochondral bone growth in achondroplasia disorders caused by mutations in FGFR3.
65                                              Achondroplasia disorders feature defects in chondrocyte
66 mutations causing Apert syndrome (FGFR2) and achondroplasia (FGFR3).
67  of anthropometric measures of children with achondroplasia from birth through 16 y of age.
68       Although the genetic defect underlying achondroplasia has been known for over a decade, no effe
69    Current research into the pathogenesis of achondroplasia has expanded our understanding of the mec
70                    Yet heterodimerization in achondroplasia has not been characterized thus far.
71                                              Achondroplasia has recently been shown to result from a
72                            Sporadic cases of achondroplasia have been associated with advanced patern
73          Others, such as Morquio syndrome or achondroplasia, have hypermobility in a more limited dis
74 ciplinary approach to care for children with achondroplasia helps families and clinicians understand
75 tic forms of dwarfism in humans and includes achondroplasia, hypochondroplasia and thanatophoric dysp
76 -nine families, each with a sporadic case of achondroplasia in a child, were analyzed in this study.
77  has recently been approved for treatment of achondroplasia in children.
78 ins the FGFR3 gene, which is responsible for achondroplasia in humans, but not in dogs.
79 clinical findings and the natural history of achondroplasia in order to improve the outcome for each
80 iated with either thanatophoric dysplasia or achondroplasia, in the TM domain of fibroblast growth fa
81 tain de novo human genetic conditions (e.g., achondroplasia) increase in incidence with the age of th
82                                              Achondroplasia is a genetic disorder that inhibits endoc
83                                              Achondroplasia is a genetic skeletal condition that resu
84                                              Achondroplasia is a heterozygous disorder, and thus the
85 of average stature, the BMI in children with achondroplasia is higher at birth, lacks a steep increas
86                   Instead, FGFR3 activity in achondroplasia is increased due to increased probability
87                                              Achondroplasia is the most common form of short limb dwa
88                                              Achondroplasia is the most common genetic form of short-
89                                              Achondroplasia is the most common short stature skeletal
90                                              Achondroplasia is the most prevalent genetic form of dwa
91  results suggest that the molecular basis of achondroplasia is unregulated signal transduction throug
92 rst pharmacological, precision treatment for achondroplasia; it was approved for use in 2021, creatin
93 ted that both transgenes result in a similar achondroplasia-like dwarfism.
94 chondroplasia and 8246 controls to calculate achondroplasia-like facial scores.
95 ach to identify genomic loci associated with achondroplasia-like facial variation in the general popu
96 an activated FGFR1 signaling pathway with an achondroplasia-like mouse that expresses a similarly act
97 n of secondary ossification centers, and the achondroplasia-like phenotype.
98   The clinical and radiographic hallmarks of achondroplasia make accurate diagnosis possible in most
99                                              Achondroplasia may be one of the number of cogenital dis
100 , is being defined more fully in adults with achondroplasia; most of the serious complications can be
101 omoting treatment for these complications of achondroplasia must precede the timing of the synchondro
102 ndrocyte proliferation in mice expressing an achondroplasia mutant of Fgfr3, it did not rescue the re
103 e molecular and cellular consequences of the achondroplasia mutation are being elucidated, providing
104 e have determined the parental origin of the achondroplasia mutation in 40 sporadic cases.
105                      In this population, the achondroplasia mutation occurred on the paternal chromos
106 he FGFR3 gene, within close proximity to the achondroplasia mutation site.
107                  As with humans carrying the achondroplasia mutation, the resulting transgenic mice a
108  increased risk for producing offspring with achondroplasia mutations, and risk of fathering offsprin
109 ummary of management and current research in achondroplasia (OMIM 100800).
110                             In children with achondroplasia, once-daily subcutaneous administration o
111 tor 3 gene (FGFR3) mutations associated with achondroplasia (P < 0.01) with no evidence for age thres
112  and foramen magnum stenosis in heterozygous achondroplasia patients, therefore, may occur through pr
113 oximal to the FGFR3 gene responsible for the achondroplasia phenotype.
114  and skeletal alterations with phocomelic or achondroplasia phenotype.
115 ial effects approximating the characteristic achondroplasia phenotype.
116 he most common nonlethal skeletal dysplasia, achondroplasia presents a distinct clinical picture evid
117 pluripotent stem cells from individuals with achondroplasia, RBM-007 rescued impaired chondrocyte dif
118 % CI, 0.35 to 0.72) relative to an untreated achondroplasia reference population at 18 months; the me
119                                   Homozygous achondroplasia resembles the phenotype of TD.
120 s together with our earlier observation that achondroplasia results from constitutive activation of t
121 olygenic basis for facial variation along an achondroplasia-specific shape axis, identifying genes pr
122 Contrasts between the skeletal phenotype and achondroplasia suggest that activation of FGFR3 causes a
123 Growth Factor Receptor 3 (FGFR3) that causes achondroplasia suggests that disease results from increa
124 or 3 (FGFR3) have been found in persons with achondroplasia, thanatophoric dysplasia, and hypochondro
125                                              Achondroplasia, the most common form of dwarfism in huma
126                                              Achondroplasia, the most common form of human dwarfism,
127 last growth factor receptor 3 (FGFR3) causes achondroplasia, the most common form of human dwarfism.
128 ane domain is known as the genetic cause for achondroplasia, the most common form of human dwarfism.
129 tor 3 (FGFR3) of the RTK family is linked to achondroplasia, the most common form of human dwarfism.
130                                              Achondroplasia, the most common genetic form of dwarfism
131                                              Achondroplasia, the most common genetic form of dwarfism
132 owth and activating mutations in Fgfr3 cause achondroplasia, the most common genetic form of dwarfism
133 r relevance with the recent observation that achondroplasia, the most common genetic form of human dw
134 ese mice showed a dwarf phenotype similar to achondroplasia, the most common human dwarfism, caused b
135                                              Achondroplasia, the most common skeletal dysplasia, is c
136 lated to paternal age (e.g., Apert syndrome, achondroplasia), this process is known as "selfish sperm
137                         The genetic cause of achondroplasia was discovered in 1994.
138 ligible patients had a clinical diagnosis of achondroplasia, were ambulatory, had participated for 6
139 weight management guidance for children with achondroplasia, whose body proportions are unlike those
140 tophoric dysplasia type II (TDII) and severe achondroplasia with developmental delay and acanthosis n
141 TD2) (A1948G [Lys650Glu]) and SADDAN (severe achondroplasia with developmental delay and acanthosis n
142  caused by the Lys650Met mutation as "severe achondroplasia with developmental delay and acanthosis n
143 ization of care for children and adults with achondroplasia worldwide in order to optimize their clin

 
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