109 kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome.
about
Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic HybridizationChromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome.Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder.Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth.Application of high-resolution array comparative genomic hybridization in children with unknown syndromic microcephaly.Uncommon oral cleft in Wolf-Hirschhorn syndrome.Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome.
P2860
Q36719975-182A2F21-B519-4F37-95B1-64739CB72459Q36761956-235E68CC-BC3B-43D9-AA79-A94E517BD84DQ38307737-15D0415A-D48E-4983-AC85-57FDFAE0ADC8Q41883386-334A5282-1456-4603-AD0B-8397F3CE31CFQ41920006-818C7A89-A055-4233-AB1D-37C751490FB6Q41928369-43F1998F-69BE-4D48-B20B-B9B4212DDB60Q55044564-7B94CB07-0D9D-4DAE-84CE-C55FCEAFE559
P2860
109 kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年学术文章
@wuu
2013年学术文章
@zh
2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
2013年學術文章
@zh-hant
name
109 kb deletion of chromosome ...... e of Wolf-Hirschhorn syndrome.
@en
109 kb deletion of chromosome ...... e of Wolf-Hirschhorn syndrome.
@nl
type
label
109 kb deletion of chromosome ...... e of Wolf-Hirschhorn syndrome.
@en
109 kb deletion of chromosome ...... e of Wolf-Hirschhorn syndrome.
@nl
prefLabel
109 kb deletion of chromosome ...... e of Wolf-Hirschhorn syndrome.
@en
109 kb deletion of chromosome ...... e of Wolf-Hirschhorn syndrome.
@nl
P2093
P2860
P356
P1476
109 kb deletion of chromosome ...... e of Wolf-Hirschhorn syndrome.
@en
P2093
Kazumi Ohmachi
Keiko Shimojima
Nobuhiko Okamoto
Shino Shimada
Toshiyuki Yamamoto
P2860
P304
P356
10.1002/AJMG.A.35910
P407
P577
2013-05-01T00:00:00Z