1 n eyes of 5 patients diagnosed with CSNB2 (4
X-linked recessive,
1 autosomal recessive) and 6 eyes of
2 ses were either autosomal recessive (30.8%),
X-linked recessive (
3.8%) or autosomal dominant (excludi
3 De novo (9.3%),
X-linked recessive (
5.2%) and compound heterozygous (3.5
4 , the inner and outer retinal layers of both
X-linked recessive and autosomal recessive CSNB2 patient
5 CSNB2 patients (
X-linked recessive and autosomal recessive) had signific
6 erited and 5% were de novo), 1 was inherited
X-linked recessive,
and 1 was of uncertain inheritance.
7 We mapped a new
X-linked recessive atrophic macular degeneration locus t
8 n the CYBB gene encoding gp91(phox) leads to
X-linked recessive CGD.
9 Novel therapies for choroideremia, an
X-linked recessive chorioretinal degeneration, demand a
10 Choroideremia (CHM) is an
x-linked recessive chorioretinal dystrophy, with 30% cau
11 Menkes disease is an
X-linked recessive condition characterized by seizures,
12 d occipital horn syndrome (OHS) are allelic,
X-linked recessive copper-deficiency disorders resulting
13 affected brothers from a family segregating
X-linked recessive CSNB2 had a mutation, p.R614X, in the
14 cleoprotein (snoRNP) particles is mutated in
X-linked recessive DC.
15 X-linked recessive deficiency of TLR7, a MyD88- and IRAK
16 Duchenne muscular dystrophy (DMD) is an
X-linked recessive disease caused by mutations in the ge
17 Duchenne muscular dystrophy (DMD) is an
X-linked recessive disease caused by the lack of express
18 Duchenne muscular dystrophy (DMD) is an
X-linked recessive disease caused, in most cases, by the
19 Duchenne muscular dystrophy (DMD) is an
X-linked recessive disease characterized by mutations in
20 The most common
X-linked recessive disease is Duchenne muscular dystroph
21 Interestingly, new mutations in
X-linked recessive disease show elevated familial recurr
22 Choroideremia is an
X-linked recessive disease that leads to blindness due t
23 erable fraction of unexpected recurrences of
X-linked recessive disease.
24 severe, progressive, and rare neuromuscular,
X-linked recessive disease.
25 Duchenne muscular dystrophy (DMD), an
X-linked recessive disorder affecting 1 in 3500 males, i
26 Wiskott Aldrich syndrome (WAS) is an
X-linked recessive disorder associated with abnormalitie
27 uchenne muscular dystrophy (DMD) is a severe
X-linked recessive disorder caused by a mutation in the
28 Lowe syndrome (LS) is an
X-linked recessive disorder caused by mutations in OCRL,
29 Duchenne muscular dystrophy is a lethal
X-linked recessive disorder caused by mutations in the d
30 CblX (MIM309541) is an
X-linked recessive disorder characterized by defects in
31 ia (FA) is a rare multi-genic, autosomal and
X-linked recessive disorder characterized by hematologic
32 Duchenne muscular dystrophy (DMD) is an
X-linked recessive disorder characterized by progressive
33 Wiskott-Aldrich syndrome (WAS) is an
X-linked recessive disorder characterized by thrombocyto
34 Wiskott-Aldrich syndrome (WAS) is an
X-linked recessive disorder characterized by thrombocyto
35 amilies in which COVID-19 segregates like an
X-linked recessive disorder environmentally conditioned
36 Fabry disease is an
X-linked recessive disorder in which affected persons la
37 uchenne muscular dystrophy (DMD) is a severe
X-linked recessive disorder marked by progressive muscle
38 Hemophilia B, or factor IX deficiency, is an
X-linked recessive disorder occurring in about 1 in 25,0
39 Lesch-Nyhan disease is a rare, devastating,
X-linked recessive disorder of purine synthesis.
40 Fabry disease is an
X-linked recessive disorder resulting in the deposition
41 r dystrophy (DMD) is a progressive disabling
X-linked recessive disorder that causes gradual and irre
42 Lesch-Nyhan disease is an
X-linked recessive disorder that is caused by a wide var
43 Haemophilia B, or factor IX deficiency, is a
X-linked recessive disorder that occurs in about one in
44 eficiency of the human enzyme activity is an
X-linked recessive disorder with a clinical picture vary
45 ock syndrome (CMTX4) is a slowly progressive
X-linked recessive disorder with axonal neuropathy, deaf
46 cular dystrophy is a severe life-threatening
X-linked recessive disorder, caused by mutations in the
47 Duchenne muscular dystrophy is an
X-linked recessive disorder, primarily characterized by
48 ing gene underlying Lesch-Nyhan syndrome, an
X-linked recessive disorder.
49 ecently associated with cblX (MIM309541), an
X-linked, recessive disorder characterized by multiple c
50 n additional mechanism for the expression of
X-linked recessive disorders.
51 and fathers, suggesting that there may be an
X-linked recessive effect.
52 Mutations in emerin cause
X-linked recessive Emery-Dreifuss muscular dystrophy.
53 We identified an
X-linked recessive form of OI caused by defects in MBTPS
54 orted the identification of the gene for the
X-linked recessive form, which maps to Xp22.2.
55 have been shown to underlie a subset of the
X-linked recessive forms of AI.
56 t has been hypothesized that, in addition to
X-linked recessive genes, Haldane's rule also reflects t
57 Duchenne muscular dystrophy (DMD) is an
X-linked recessive genetic disease caused by mutations i
58 These findings suggest that
X-linked recessive human MCTS1 deficiency underlies isol
59 demonstrate that the two kindreds exhibiting
X-linked recessive hypoparathyroidism are indeed related
60 -linked recessive nephrolithiasis (XRN), and
X-linked recessive hypophosphataemic rickets (XLRH)) hav
61 residing in eastern Missouri and exhibiting
X-linked recessive idiopathic hypoparathyroidism have be
62 The Wiskott-Aldrich syndrome (WAS) is an
X-linked recessive immune deficiency disorder characteri
63 The findings define a new
X-linked recessive immunodeficiency syndrome, distinct f
64 llergic disregulation syndrome (XLAAD) is an
X-linked recessive immunological disorder characterized
65 dase A (alpha-GalA), cause Fabry disease, an
X-linked recessive inborn error of glycosphingolipid cat
66 Fabry disease is an
X-linked recessive inborn metabolic disorder characteriz
67 onal 30% of 91 well-documented families with
X-linked recessive inheritance and in 22% of the total 2
68 Patients with autosomal or
X-linked recessive inheritance and those with heterozygo
69 issense mutations in DDX3X, suggestive of an
X-linked recessive inheritance pattern.
70 ean royal families, is a striking example of
X-linked recessive inheritance.
71 nsory neuropathies of autosomal dominant and
X-linked recessive inheritance.
72 a hundred genes have been reported to cause
X-linked recessive intellectual disability (ID) mainly i
73 EDMD is also caused by
X-linked recessive loss-of-function mutations of emerin,
74 Fabry disease is an
X-linked recessive lysosomal storage disorder caused by
75 e II (MPS II), or Hunter syndrome, is a rare
X-linked recessive lysosomal storage disorder due to a m
76 ase (alpha-galactosidase A deficiency) is an
X-linked recessive lysosomal storage disorder.
77 We report
X-linked recessive MCTS1 deficiency in men with mycobact
78 n or deletion of known autosomal-dominant or
X-linked recessive Mendelian disease genes was diagnosti
79 pe ATPase in which diverse mutations lead to
X-linked recessive Menkes disease or occipital horn synd
80 Barth syndrome, an
X-linked recessive mitochondrial myopathy/cardiopathy, i
81 Barth syndrome, an
X-linked recessive mitochondrial myopathy/cardiopathy, i
82 Scurfy (sf) is an
X-linked recessive mouse mutant resulting in lethality i
83 Duchenne muscular dystrophy (DMD) is an
X-linked recessive muscle wasting disease caused by the
84 ercalciuric nephrolithiasis (Dent's disease,
X-linked recessive nephrolithiasis (XRN), and X-linked r
85 e formation in Dent's disease, also known as
X-linked recessive nephrolithiasis, but the effects of d
86 variants in PPP1R3F associated with a novel
X-linked recessive neurodevelopmental disorder in 13 unr
87 e (L1CAM) gene mutations are associated with
X-linked 'recessive'
neurological syndromes characterize
88 r protease, site 2) mutation was reported in
X-linked recessive OS.
89 a common occurrence in MM and that GPC3, an
X-linked recessive overgrowth gene, may encode a negativ
90 autosomal recessive gene or females with an
X-linked recessive P/LP variant.
91 Lenz microphthalmia is inherited in an
X-linked recessive pattern and comprises microphthalmia,
92 Norrie disease is an
X-linked recessive syndrome of blindness, deafness, and
93 mplete inborn errors of type I IFN immunity:
X-linked recessive TLR7 deficiency (7 children) and auto
94 ch the condition appeared to segregate as an
X-linked recessive trait (MYP1; MIM 310460).
95 ine sweat glands, is usually inherited as an
X-linked recessive trait mapped to the X-linked ectoderm
96 ine sweat glands, is usually inherited as an
X-linked recessive trait, although rarer autosomal domin
97 -ID), in which the disorder segregates as an
X-linked recessive trait.
98 nty-six percent of registry patients had the
X-linked recessive (
XLR) form of CGD.