Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23
about
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
Q30008817-CD0318AA-2AC4-4204-B8B8-C0E703190649Q36701704-F20EFDDB-CF61-4E63-8891-6AE13F0FF89DQ37189127-3C531A7B-D90B-4D9B-B5EC-5ED7F0CEF79DQ37548448-4ACE3D78-C305-4259-B247-615665998D65Q38020689-377C8FE3-1CE9-4ADB-9913-256F2DA97467Q38565730-4CBDF8C5-8672-435A-90FF-42716826F020Q39240567-87B2E4A0-FE4C-4DE3-B468-913A387E333DQ40528308-127D7F1B-9366-4DBD-A3AD-E9ABDEFF3F9CQ41904211-4E6604B8-884C-448B-A96B-867105AE06FBQ42155085-6AFB4BF5-A1EC-4DD8-BD57-A1C95E723C05Q43126464-3802306F-0E1E-4832-83B6-180C05131CA2Q45756451-C4ACECF5-F741-4199-A901-978E999AF771
P2860
Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23
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
P2093
P1433
P1476
Dyschromatosis universalis her ...... locus on chromosome 12q21-q23
@en
P2093
E-H A El-Harith
G Nürnberg
H C Hennies
H Frye-Boukhriss
J Huebener
J Schmidtke
K Brakensiek
M C Miranda
P304
P356
10.1111/J.1399-0004.2008.01000.X
P407
P577
2008-05-06T00:00:00Z