Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
about
The cilia-regulated proteasome and its role in the development of ciliopathies and cancerUpdate on oral-facial-digital syndromes (OFDS)Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging studyInfantile hydrocephalus: a review of epidemiology, classification and causes.Exome Sequencing in Fetuses with Structural MalformationsNovel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome SequencingTwo Hundred Thirty-Six Children With Developmental Hydrocephalus: Causes and Clinical Consequences.A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report.Primary cilia in neurodevelopmental disorders.Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network.C5orf42 is the major gene responsible for OFD syndrome type VI.The role of primary cilia in corpus callosum formation is mediated by production of the Gli3 repressor.A genetic signature of the evolution of loss of flight in the Galapagos cormorant.Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum.Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.The Bardet–Biedl and orofacial digital type 1 ciliopathies
P2860
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P2860
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
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2012 nî lūn-bûn
@nan
2012 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Novel mutations including dele ...... xtensive clinical variability.
@ast
Novel mutations including dele ...... xtensive clinical variability.
@en
type
label
Novel mutations including dele ...... xtensive clinical variability.
@ast
Novel mutations including dele ...... xtensive clinical variability.
@en
prefLabel
Novel mutations including dele ...... xtensive clinical variability.
@ast
Novel mutations including dele ...... xtensive clinical variability.
@en
P2093
P2860
P50
P356
P1433
P1476
Novel mutations including dele ...... xtensive clinical variability.
@en
P2093
Andreas Busche
Angelika Rieß
Ann-Sophie Kaiser
Bernd Roesler
Brigitte Wellek
Christina Evers
Christine Zeschnigk
Dagmar Wieczorek
Deborah J Morris-Rosendahl
Denise Horn
P2860
P304
P356
10.1002/HUMU.22224
P577
2012-10-17T00:00:00Z