Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23

Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23

Item
http://www.wikidata.org/entity/Q28279259
A novel P53/POMC/Gαs/SASH1 autoregulatory feedback loop activates mutated SASH1 to cause pathologic hyperpigmentation.Differential Diagnosis of Two Chinese Families with Dyschromatoses by Targeted Gene Sequencing.Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation.Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria.Acromelanosis albo-punctata: a distinct inherited dermatosis with acral spotty dyspigmentation without systemic involvement.Dyschromatosis Universalis Hereditaria with Oral Leukokeratosis--A Case of Mistaken Identity and Review of the Literature.Updated review of genetic reticulate pigmentary disorders.Dyschromatosis universalis hereditaria with renal failureHomozygosityMapper--an interactive approach to homozygosity mapping.Follicular occlusion triad associated with reticulate pigmentary disorder: is there a genetic linkage?Dyschromias: A Series of Five Interesting Cases from India.Clinical and Genetic Review of Hereditary Acral Reticulate Pigmentary Disorders.
P2860

Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23

Item
http://www.wikidata.org/entity/Q28279259
description
2008 nî lūn-bûn
@nan
2008 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Dyschromatosis universalis her ...... locus on chromosome 12q21-q23
@ast
Dyschromatosis universalis her ...... locus on chromosome 12q21-q23
@en
Dyschromatosis universalis her ...... locus on chromosome 12q21-q23
@nl
type
label
Dyschromatosis universalis her ...... locus on chromosome 12q21-q23
@ast
Dyschromatosis universalis her ...... locus on chromosome 12q21-q23
@en
Dyschromatosis universalis her ...... locus on chromosome 12q21-q23
@nl
prefLabel
Dyschromatosis universalis her ...... locus on chromosome 12q21-q23
@ast
Dyschromatosis universalis her ...... locus on chromosome 12q21-q23
@en
Dyschromatosis universalis her ...... locus on chromosome 12q21-q23
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P921
P356
P1433
P1476
Dyschromatosis universalis her ...... locus on chromosome 12q21-q23
@en
P2093
P304
P31
P356
10.1111/J.1399-0004.2008.01000.X
P407
P433
P478
P50
P577
P5875
P698
P921