A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities
about
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndromeNeurodegeneration with brain iron accumulation: diagnosis and managementGenetics of neurodegeneration with brain iron accumulationHypergonadotropic hypogonadism, progressive early-onset spinocerebellar ataxia, and late-onset sensorineural hearing loss: case report and literature review.Late-onset neurodegeneration with brain iron accumulation with diffusion tensor magnetic resonance imagingNeurodegeneration with Brain Iron Accumulation: Clinicoradiological Approach to Diagnosis.The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati SyndromeEndocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature.Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome.Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome.Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation.A case of hypogonadism presented with alopecia universalis.Primary hypogonadism, partial alopecia, and Müllerian hypoplasia: report of a fifth family and reviewWoodhouse Sakati syndrome associated with bilateral keratoconus.Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome.Deletion of DDB1- and CUL4- associated factor-17 (Dcaf17) gene causes spermatogenesis defects and male infertility in mice.Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3
P2860
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P2860
A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities
description
1983 nî lūn-bûn
@nan
1983 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1983 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1983年の論文
@ja
1983年論文
@yue
1983年論文
@zh-hant
1983年論文
@zh-hk
1983年論文
@zh-mo
1983年論文
@zh-tw
1983年论文
@wuu
name
A syndrome of hypogonadism, al ...... eafness, and ECG abnormalities
@ast
A syndrome of hypogonadism, al ...... eafness, and ECG abnormalities
@en
A syndrome of hypogonadism, al ...... eafness, and ECG abnormalities
@en-gb
A syndrome of hypogonadism, al ...... eafness, and ECG abnormalities
@nl
type
label
A syndrome of hypogonadism, al ...... eafness, and ECG abnormalities
@ast
A syndrome of hypogonadism, al ...... eafness, and ECG abnormalities
@en
A syndrome of hypogonadism, al ...... eafness, and ECG abnormalities
@en-gb
A syndrome of hypogonadism, al ...... eafness, and ECG abnormalities
@nl
prefLabel
A syndrome of hypogonadism, al ...... eafness, and ECG abnormalities
@ast
A syndrome of hypogonadism, al ...... eafness, and ECG abnormalities
@en
A syndrome of hypogonadism, al ...... eafness, and ECG abnormalities
@en-gb
A syndrome of hypogonadism, al ...... eafness, and ECG abnormalities
@nl
P2860
P3181
P356
P1476
A syndrome of hypogonadism, al ...... eafness, and ECG abnormalities
@en
P2093
N A Sakati
N J Woodhouse
P2860
P3181
P356
10.1136/JMG.20.3.216
P407
P577
1983-06-01T00:00:00Z