Three siblings with Woodhouse-Sakati syndrome in an Indian family.
about
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndromeNeurodegeneration with brain iron accumulation: diagnosis and managementThe 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.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.Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome.
P2860
Q24643797-A3B516BF-37F9-47C0-8669-9EF4E6E1EFF2Q28085510-44A22BCB-D650-412F-BB42-F0ED4B7FBEDCQ36333082-400AC963-A6CD-4FC4-98A3-07F31712A857Q38181990-50D6783D-A0D3-45FE-8012-A9ACAB8E49EBQ40462708-05286B65-3EB4-4B94-A836-67529D469879Q41899094-5C5F48E3-C13E-4B02-B4A3-783C56C3E3F2Q51759833-B818464E-4912-4878-8A83-485946C73D0B
P2860
Three siblings with Woodhouse-Sakati syndrome in an Indian family.
description
2008 nî lūn-bûn
@nan
2008 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Three siblings with Woodhouse-Sakati syndrome in an Indian family.
@ast
Three siblings with Woodhouse-Sakati syndrome in an Indian family.
@en
type
label
Three siblings with Woodhouse-Sakati syndrome in an Indian family.
@ast
Three siblings with Woodhouse-Sakati syndrome in an Indian family.
@en
prefLabel
Three siblings with Woodhouse-Sakati syndrome in an Indian family.
@ast
Three siblings with Woodhouse-Sakati syndrome in an Indian family.
@en
P2093
P1476
Three siblings with Woodhouse-Sakati syndrome in an Indian family.
@en
P2093
George Koshy
Nihal Thomas
Sumita Danda
Vijay Viswanathan
Vikram Mathews
P356
10.1097/MCD.0B013E3282BEB59E
P577
2008-01-01T00:00:00Z