Campomelic dysplasia: evidence of autosomal dominant inheritance.
about
A clinical and genetic study of campomelic dysplasia.Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activationFine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasiaCampomelic dysplasia with XY sex reversal: diverse phenotypes resulting from mutations in a single gene.Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome.
P2860
Campomelic dysplasia: evidence of autosomal dominant inheritance.
description
1993 nî lūn-bûn
@nan
1993 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Campomelic dysplasia: evidence of autosomal dominant inheritance.
@ast
Campomelic dysplasia: evidence of autosomal dominant inheritance.
@en
type
label
Campomelic dysplasia: evidence of autosomal dominant inheritance.
@ast
Campomelic dysplasia: evidence of autosomal dominant inheritance.
@en
prefLabel
Campomelic dysplasia: evidence of autosomal dominant inheritance.
@ast
Campomelic dysplasia: evidence of autosomal dominant inheritance.
@en
P2093
P2860
P356
P1476
Campomelic dysplasia: evidence of autosomal dominant inheritance.
@en
P2093
P2860
P304
P356
10.1136/JMG.30.8.683
P407
P577
1993-08-01T00:00:00Z