The orofaciodigital (OFD) syndromes.

The orofaciodigital (OFD) syndromes.

Item
http://www.wikidata.org/entity/Q33672548
Craniodentofacial Manifestations in a Rare Syndrome: Orofaciodigital Type IV (Mohr-Majewski Syndrome)TCTN3 mutations cause Mohr-Majewski syndromeUpdate on oral-facial-digital syndromes (OFDS)Cilia/Ift protein and motor -related bone diseases and mouse modelsOrofaciodigital syndrome type I in a girl with unilateral tibial pseudarthrosisTMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 functionMutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome.Distinctive Skeletal Abnormalities With No Microdeletions or Microduplications on Array-CGH in a Boy With Mohr Syndrome (Oro-Facial-Digital Type II)Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.
P2860

The orofaciodigital (OFD) syndromes.

Item
http://www.wikidata.org/entity/Q33672548
description
1986 nî lūn-bûn
@nan
1986 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1986 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1986年の論文
@ja
1986年論文
@yue
1986年論文
@zh-hant
1986年論文
@zh-hk
1986年論文
@zh-mo
1986年論文
@zh-tw
1986年论文
@wuu
name
The orofaciodigital (OFD) syndromes.
@ast
The orofaciodigital (OFD) syndromes.
@en
type
label
The orofaciodigital (OFD) syndromes.
@ast
The orofaciodigital (OFD) syndromes.
@en
prefLabel
The orofaciodigital (OFD) syndromes.
@ast
The orofaciodigital (OFD) syndromes.
@en
P1433
P1476
P2860
P304
P31
P407
P433
P478
P50
P577
P698
P932
P1433
P1476
The orofaciodigital (OFD) syndromes.
@en
P2860
P304
P31
P407
P433
P478
P50
P577
P698
P932