Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease.
about
Identification of the gene for oral-facial-digital type I syndromeClinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative studyOrofaciodigital syndrome type I in a girl with unilateral tibial pseudarthrosisA male with type I orofaciodigital syndromeNovel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.Variability of expression of oral-facial-digital syndrome type I in 15 Saudi girls: Why is there a high rate of median cleft lip in the phenotype?The pathogenesis of the clinical features of oral-facial-digital syndrome type I.Adult polycystic kidney disease.Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I).
P2860
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P2860
Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease.
description
1987 nî lūn-bûn
@nan
1987 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1987 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1987年の論文
@ja
1987年論文
@yue
1987年論文
@zh-hant
1987年論文
@zh-hk
1987年論文
@zh-mo
1987年論文
@zh-tw
1987年论文
@wuu
name
Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease.
@ast
Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease.
@en
type
label
Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease.
@ast
Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease.
@en
prefLabel
Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease.
@ast
Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease.
@en
P2093
P2860
P356
P1476
Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease
@en
P2093
L Kerzin-Storrar
P2860
P356
10.1136/JMG.24.2.84
P407
P577
1987-02-01T00:00:00Z