Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes.
about
Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataractsA homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.
P2860
Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes.
description
1999 nî lūn-bûn
@nan
1999 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Complex consanguinity associat ...... oblem in dysmorphic syndromes.
@ast
Complex consanguinity associat ...... oblem in dysmorphic syndromes.
@en
type
label
Complex consanguinity associat ...... oblem in dysmorphic syndromes.
@ast
Complex consanguinity associat ...... oblem in dysmorphic syndromes.
@en
prefLabel
Complex consanguinity associat ...... oblem in dysmorphic syndromes.
@ast
Complex consanguinity associat ...... oblem in dysmorphic syndromes.
@en
P2093
P2860
P1476
Complex consanguinity associat ...... roblem in dysmorphic syndromes
@en
P2093
Johansen J
al-Gazali LI
P2860
P304
P407
P577
1999-06-01T00:00:00Z