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 consortium
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 syndromeHomozygosity for Waardenburg syndromeClinical and genetic investigation of families with type II Waardenburg syndrome.Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease.Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q.The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1)PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II.Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in KoreaEPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome.Major-locus contributions to variability of the craniofacial feature dystopia canthorum in Waardenburg syndrome.Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes.Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in ChinaAnesthetic management of Shah-Waardenburg syndrome: Experience of two cases and review of literature.Waardenburg Syndrome: A Case Study of Two Patients.A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1.Molecular Etiology of Hereditary Single-Side Deafness: Its Association With Pigmentary Disorders and Waardenburg Syndrome.Pigmentation PAX-ways: the role of Pax3 in melanogenesis, melanocyte stem cell maintenance, and diseaseA Novel Pathogenic Variant in the MITF Gene Segregating with a Unique Spectrum of Ocular Findings in an Extended Iranian Waardenburg Syndrome Kindred.A novel PAX3 mutation in a Japanese boy with Waardenburg syndrome type 1.Anaesthesia Management in a Patient with Waardenburg Syndrome and Review of the Literature.A novel mutation of the MITF gene in a family with Waardenburg syndrome type 2: A case report.Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.Anisometropic amblyopia in a case of type 2 Waardenburg syndrome.A combined test of linkage heterogeneity.Waardenburg syndrome: A rare case with bilateral congenital cataract: An unusual entity.Facts on PAX.Waardenburg-Shah Syndrome: a rare case in an Indian child.Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families.Waardenburg syndrome: A rare case.Rare Association of Waardenburg Syndrome with Minimal Change Disease.
P2860
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P2860
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 consortium
description
1992 nî lūn-bûn
@nan
1992 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年学术文章
@wuu
1992年学术文章
@zh-cn
1992年学术文章
@zh-hans
1992年学术文章
@zh-my
1992年学术文章
@zh-sg
1992年學術文章
@yue
name
Waardenburg syndrome (WS) type ...... st report of the WS consortium
@ast
Waardenburg syndrome (WS) type ...... st report of the WS consortium
@en
Waardenburg syndrome (WS) type ...... st report of the WS consortium
@nl
type
label
Waardenburg syndrome (WS) type ...... st report of the WS consortium
@ast
Waardenburg syndrome (WS) type ...... st report of the WS consortium
@en
Waardenburg syndrome (WS) type ...... st report of the WS consortium
@nl
prefLabel
Waardenburg syndrome (WS) type ...... st report of the WS consortium
@ast
Waardenburg syndrome (WS) type ...... st report of the WS consortium
@en
Waardenburg syndrome (WS) type ...... st report of the WS consortium
@nl
P2093
P2860
P3181
P1476
Waardenburg syndrome (WS) type ...... st report of the WS consortium
@en
P2093
K M Grundfast
L A Farrer
P Beighton
T B Friedman
P2860
P304
P3181
P407
P577
1992-05-01T00:00:00Z