Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome.

Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome.

Item
http://www.wikidata.org/entity/Q51919650
Tooth agenesis and orofacial clefting: genetic brothers in arms?Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region.Expression profiling and bioinformatic analyses suggest new target genes and pathways for human hair follicle related microRNAsDelineation of 2q32q35 deletion phenotypes: two apparent "proximal" and "distal" syndromes.Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes.The refinement of the critical region for the 2q31.2q32.3 deletion syndrome indicates candidate genes for mental retardation and speech impairment.De novo interstitial deletion of 3q22.3-q25.2 encompassing FOXL2, ATR, ZIC1, and ZIC4 in a patient with blepharophimosis/ptosis/epicanthus inversus syndrome, Dandy-Walker malformation, and global developmental delay.SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations.Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism
P2860

Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome.

Item
http://www.wikidata.org/entity/Q51919650
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
2010年學術文章
@zh-hant
name
Ectodermal dysplasia-like synd ...... d molecular delineation of del
@nl
Ectodermal dysplasia-like synd ...... neation of del(2q32) syndrome.
@en
type
label
Ectodermal dysplasia-like synd ...... d molecular delineation of del
@nl
Ectodermal dysplasia-like synd ...... neation of del(2q32) syndrome.
@en
prefLabel
Ectodermal dysplasia-like synd ...... d molecular delineation of del
@nl
Ectodermal dysplasia-like synd ...... neation of del(2q32) syndrome.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P698
P356
P1433
P1476
Ectodermal dysplasia-like synd ...... neation of del(2q32) syndrome.
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P698