Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I).
about
Update on oral-facial-digital syndromes (OFDS)Spectrum of clinical diseases caused by disorders of primary ciliaNovel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.Primary cilia in pancreatic development and disease.Placental mesenchymal dysplasia and fetal renal-hepatic-pancreatic dysplasia: androgenetic-biparental mosaicism and pathogenesis of an autosomal recessive disorder.An Atypical Presentation of a Male with Oral-Facial-Digital Syndrome Type 1 Related Ciliopathy.A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report.Ciliopathies.Challenges in genetic counseling because of intra-familial phenotypic variation of oral-facial-digital syndrome type 1.The pathogenesis of the clinical features of oral-facial-digital syndrome type I.Integration of over 9,000 mass spectrometry experiments builds a global map of human protein complexes.The Bardet–Biedl and orofacial digital type 1 ciliopathies
P2860
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P2860
Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I).
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
2010年學術文章
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2010年學術文章
@zh-hant
name
Fibrocystic disease of liver a ...... gital syndrome type 1 (OFD I).
@en
Fibrocystic disease of liver a ...... facial-digital syndrome type 1
@nl
type
label
Fibrocystic disease of liver a ...... gital syndrome type 1 (OFD I).
@en
Fibrocystic disease of liver a ...... facial-digital syndrome type 1
@nl
prefLabel
Fibrocystic disease of liver a ...... gital syndrome type 1 (OFD I).
@en
Fibrocystic disease of liver a ...... facial-digital syndrome type 1
@nl
P2093
P2860
P356
P1476
Fibrocystic disease of liver a ...... gital syndrome type 1 (OFD I).
@en
P2093
Isa Bernardini
Joy Bryant
Katie Piwnica-Worms
Meral Gunay-Aygun
Roxanne E Fischer
Shilpa Chetty-John
Theo Heller
William A Gahl
P2860
P304
P356
10.1002/AJMG.A.33666
P407
P577
2010-10-01T00:00:00Z