A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum

A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum

Item
http://www.wikidata.org/entity/Q28236613
Structural plasticity of climbing fibers and the growth-associated protein GAP-43Deletion of chromosome 3q proximal region gives rise to a variable phenotypeBoc modifies the spectrum of holoprosencephaly in the absence of Gas1 functionA novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial featuresRecurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1.Identification of novel genomic imbalances in Saudi patients with congenital heart disease.A de novo 1.9-Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay.A Chinese patient with Toriello-Carey syndrome and an interstitial deletion of 3q.Female patient with autistic disorder, intellectual disability, and co-morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2-q13.31 microdeletion
P2860

A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum

Item
http://www.wikidata.org/entity/Q28236613
description
1994 nî lūn-bûn
@nan
1994 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
A new case of interstitial del ...... genesis of the corpus callosum
@ast
A new case of interstitial del ...... genesis of the corpus callosum
@en
A new case of interstitial del ...... genesis of the corpus callosum
@nl
type
label
A new case of interstitial del ...... genesis of the corpus callosum
@ast
A new case of interstitial del ...... genesis of the corpus callosum
@en
A new case of interstitial del ...... genesis of the corpus callosum
@nl
prefLabel
A new case of interstitial del ...... genesis of the corpus callosum
@ast
A new case of interstitial del ...... genesis of the corpus callosum
@en
A new case of interstitial del ...... genesis of the corpus callosum
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P698
P356
P1433
P1476
A new case of interstitial del ...... genesis of the corpus callosum
@en
P2093
P304
P31
P356
10.1097/00019605-199410000-00003
P407
P433
P478
P577
P698