Upper limb involvement in the Klein-Waardenburg syndrome
about
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)Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortiumMouse and hamster mutants as models for Waardenburg syndromes in humans.Oesophageal and sternohyal muscle fibres are novel Pax3-dependent migratory somite derivatives essential for ingestion.Hereditary multiple exostoses.Absence of a vagina and right sided adnexa uteri in the Waardenburg syndrome: a possible clue to the embryological defectChromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q.Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse.Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes.Recurrence risks.Auditory and vestibular findings in Waardenburg's type II syndrome.Waardenburg syndrome: a variant with neurological involvement.Neural crest anomaly syndromes in children with spina bifida.
P2860
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P2860
Upper limb involvement in the Klein-Waardenburg syndrome
description
1982 nî lūn-bûn
@nan
1982 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1982 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1982年の論文
@ja
1982年論文
@yue
1982年論文
@zh-hant
1982年論文
@zh-hk
1982年論文
@zh-mo
1982年論文
@zh-tw
1982年论文
@wuu
name
Upper limb involvement in the Klein-Waardenburg syndrome
@ast
Upper limb involvement in the Klein-Waardenburg syndrome
@en
Upper limb involvement in the Klein-Waardenburg syndrome
@nl
type
label
Upper limb involvement in the Klein-Waardenburg syndrome
@ast
Upper limb involvement in the Klein-Waardenburg syndrome
@en
Upper limb involvement in the Klein-Waardenburg syndrome
@nl
prefLabel
Upper limb involvement in the Klein-Waardenburg syndrome
@ast
Upper limb involvement in the Klein-Waardenburg syndrome
@en
Upper limb involvement in the Klein-Waardenburg syndrome
@nl
P2093
P356
P1476
Upper limb involvement in the Klein-Waardenburg syndrome
@en
P2093
P304
P356
10.1002/AJMG.1320110407
P407
P577
1982-04-01T00:00:00Z