about
sameAs
Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I)PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifidaWaardenburg syndrome and myelomeningocele in a family.A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome.Absence of linkage between familial neural tube defects and PAX3 gene.The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1)Genetic, chromosomal, and syndromic causes of neural tube defects.Mouse as a model for multifactorial inheritance of neural tube defects.De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate.Neural crest anomaly syndromes in children with spina bifida.Neural tube defects in Waardenburg syndrome: A case report and review of the literature.
P2860
Q24322489-2AC52229-9F28-4785-80ED-F585694A36FEQ24517914-0B8C8FF2-9F92-4EA2-80EE-A5F10CCD5F8FQ33594911-022C279A-FDE3-436D-83DB-AE50937AF8FEQ33675525-C42AD696-5F1A-45B7-85BC-B39E472208DAQ33676068-9C7213A5-B9EF-49CE-89FE-79BA07D2B7A2Q33678917-0DF2DDAD-7D34-4427-B2E7-0433A41CEF5EQ35183483-58520C06-A1BF-45CA-89E3-1203F58E1E20Q38018292-D2E0AE27-E5E6-4330-9342-12039900AA11Q50668904-822FBE60-C656-48CB-9913-3FF93AB43539Q52174163-FEE29E52-B48A-4841-B252-508BFE04B383Q53174601-EA56C090-A688-49DB-AF77-16D2239D8622
P2860
description
1992 nî lūn-bûn
@nan
1992 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Waardenburg syndrome associated with meningomyelocele
@ast
Waardenburg syndrome associated with meningomyelocele
@en
Waardenburg syndrome associated with meningomyelocele
@nl
type
label
Waardenburg syndrome associated with meningomyelocele
@ast
Waardenburg syndrome associated with meningomyelocele
@en
Waardenburg syndrome associated with meningomyelocele
@nl
prefLabel
Waardenburg syndrome associated with meningomyelocele
@ast
Waardenburg syndrome associated with meningomyelocele
@en
Waardenburg syndrome associated with meningomyelocele
@nl
P2093
P356
P1476
Waardenburg syndrome associated with meningomyelocele
@en
P2093
M Carezani-Gavin
S K Clarren
P356
10.1002/AJMG.1320420127
P407
P577
1992-01-01T00:00:00Z