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