A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance
about
BEST1 expression in the retinal pigment epithelium is modulated by OTX family membersGenetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I.A MITF mutation associated with a dominant white phenotype and bilateral deafness in German Fleckvieh cattleBiallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and DeafnessHearing dysfunction in heterozygous Mitf(Mi-wh) /+ mice, a model for Waardenburg syndrome type 2 and Tietz syndromeInherited diseases of the inner ear in man in the light of studies on the mousePROFOUND CHILDHOOD DEAFNESS.Madarosis: a marker of many maladiesNovel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics.MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.A Novel Pathogenic Variant in the MITF Gene Segregating with a Unique Spectrum of Ocular Findings in an Extended Iranian Waardenburg Syndrome Kindred.A Three-Ring Circus: Metabolism of the Three Proteogenic Aromatic Amino Acids and Their Role in the Health of Plants and Animals.Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations.
P2860
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P2860
A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance
description
1963 nî lūn-bûn
@nan
1963 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1963 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1963年の論文
@ja
1963年論文
@yue
1963年論文
@zh-hant
1963年論文
@zh-hk
1963年論文
@zh-mo
1963年論文
@zh-tw
1963年论文
@wuu
name
A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance
@ast
A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance
@en
A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance
@nl
type
label
A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance
@ast
A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance
@en
A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance
@nl
prefLabel
A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance
@ast
A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance
@en
A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance
@nl
P1476
A syndrome of deaf-mutism associated with albinism showing dominant autosomal inheritance
@en
P2093
P2860
P304
P407
P577
1963-09-01T00:00:00Z