Cutaneous features in 17q21.31 deletion syndrome: a differential diagnosis for cardio-facio-cutaneous syndrome
about
KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.When the face says it all: dysmorphology in identifying syndromic causes of epilepsy.Complex phenotype associated with 17q21.31 microdeletion.Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.
P2860
Cutaneous features in 17q21.31 deletion syndrome: a differential diagnosis for cardio-facio-cutaneous syndrome
description
2011 nî lūn-bûn
@nan
2011 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Cutaneous features in 17q21.31 ...... ardio-facio-cutaneous syndrome
@ast
Cutaneous features in 17q21.31 ...... ardio-facio-cutaneous syndrome
@en
Cutaneous features in 17q21.31 ...... ardio-facio-cutaneous syndrome
@nl
type
label
Cutaneous features in 17q21.31 ...... ardio-facio-cutaneous syndrome
@ast
Cutaneous features in 17q21.31 ...... ardio-facio-cutaneous syndrome
@en
Cutaneous features in 17q21.31 ...... ardio-facio-cutaneous syndrome
@nl
prefLabel
Cutaneous features in 17q21.31 ...... ardio-facio-cutaneous syndrome
@ast
Cutaneous features in 17q21.31 ...... ardio-facio-cutaneous syndrome
@en
Cutaneous features in 17q21.31 ...... ardio-facio-cutaneous syndrome
@nl
P2093
P2860
P1476
Cutaneous features in 17q21.31 ...... ardio-facio-cutaneous syndrome
@en
P2093
Dian Donnai
Diana Johnson
Emma Burkitt Wright
P2860
P356
10.1097/MCD.0B013E32833E8F1E
P407
P577
2011-01-01T00:00:00Z