Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum.
about
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defectsIdentification of the gene for oral-facial-digital type I syndromeAbsence makes the search grow longerFunctional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complexOrofaciodigital 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.Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I).
P2860
Q21092495-C4288E88-66D6-4FD4-B000-18D3D915CC7FQ24536160-1DB16D8C-304A-46DA-993D-D60BA1FE7FE3Q24675345-68CC834F-43D9-4500-BD88-4C4387F1BBBDQ28118131-D3FE6B84-1DA7-4441-B22C-E16AAB84AC47Q33594711-9267A6D3-E91A-4F36-A0D7-F3CD54CD86DDQ33597617-A81D17D5-F729-4ACD-BA4B-6D64F7EAB157Q33872321-D938FE20-AC1F-4BF0-8C20-F37C6D2A0DCEQ55053395-2DD6EA29-7F33-489E-AAF6-99FD3830685F
P2860
Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum.
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
Orofaciodigital syndrome type ...... enesis of the corpus callosum.
@ast
Orofaciodigital syndrome type ...... enesis of the corpus callosum.
@en
type
label
Orofaciodigital syndrome type ...... enesis of the corpus callosum.
@ast
Orofaciodigital syndrome type ...... enesis of the corpus callosum.
@en
prefLabel
Orofaciodigital syndrome type ...... enesis of the corpus callosum.
@ast
Orofaciodigital syndrome type ...... enesis of the corpus callosum.
@en
P2093
P2860
P1476
Orofaciodigital syndrome type ...... enesis of the corpus callosum.
@en
P2093
Connacher AA
Forsyth CC
Stewart WK
P2860
P304
P407
P577
1987-02-01T00:00:00Z