Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25.
about
Haploinsufficiency of TAB2 causes congenital heart defects in humansPartial agenesis of the corpus callosum in spina bifida meningomyelocele and potential compensatory mechanismsInterstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss.Telomeres: a diagnosis at the end of the chromosomesThe role of BAF (mSWI/SNF) complexes in mammalian neural development.Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1BThe ARID1B phenotype: what we have learned so far.Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing.ARID1B-mediated disorders: Mutations and possible mechanisms.Chromatin Remodeling BAF (SWI/SNF) Complexes in Neural Development and Disorders.Deletion of the long arm of chromosome 6: report on a new case with intractable epilepsy.A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region.Array-based molecular karyotyping in fetal brain malformations: Identification of novel candidate genes and chromosomal regions.Two unrelated children with overlapping 6q25.3 deletions, motor speech disorders, and language delays.Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene.Cytogenomic delineation and clinical follow-up of two siblings with an 8.5 Mb 6q24.2-q25.2 deletion inherited from a paternal insertion.A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features.
P2860
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P2860
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25.
description
1998 nî lūn-bûn
@nan
1998 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Agenesis of the corpus callosu ...... ene in an 8 cM region of 6q25.
@ast
Agenesis of the corpus callosu ...... ene in an 8 cM region of 6q25.
@en
type
label
Agenesis of the corpus callosu ...... ene in an 8 cM region of 6q25.
@ast
Agenesis of the corpus callosu ...... ene in an 8 cM region of 6q25.
@en
prefLabel
Agenesis of the corpus callosu ...... ene in an 8 cM region of 6q25.
@ast
Agenesis of the corpus callosu ...... ene in an 8 cM region of 6q25.
@en
P2093
P2860
P356
P1476
Agenesis of the corpus callosu ...... ene in an 8 cM region of 6q25.
@en
P2093
Bortotto L
Guerrini R
Zuffardi O
P2860
P304
P356
10.1136/JMG.35.12.1031
P407
P577
1998-12-01T00:00:00Z