De novo 13q12.3-q14.11 deletion involvingBRCA2gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype
about
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyriaChromosomal aneuploidies and copy number variations in posterior fossa abnormalities diagnosed by prenatal ultrasonography.A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes.Class Switch Recombination Process in Ataxia Telangiectasia Patients with Elevated Serum Levels of IgM
P2860
De novo 13q12.3-q14.11 deletion involvingBRCA2gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype
description
article
@en
im August 2012 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в серпні 2012
@uk
name
De novo 13q12.3-q14.11 deletio ...... imicking an A-T like phenotype
@en
De novo 13q12.3-q14.11 deletio ...... imicking an A-T like phenotype
@nl
type
label
De novo 13q12.3-q14.11 deletio ...... imicking an A-T like phenotype
@en
De novo 13q12.3-q14.11 deletio ...... imicking an A-T like phenotype
@nl
prefLabel
De novo 13q12.3-q14.11 deletio ...... imicking an A-T like phenotype
@en
De novo 13q12.3-q14.11 deletio ...... imicking an A-T like phenotype
@nl
P2093
P2860
P50
P356
P1476
De novo 13q12.3-q14.11 deletio ...... imicking an A-T like phenotype
@en
P2093
Alfonso Romano
Anne Durandy
Eleonora Di Gregorio
Giovanna Abate
Lucio Nitsch
Luigi Del Vecchio
Rita Genesio
Rosa Romano
Simona Cavalieri
P2860
P304
P356
10.1002/AJMG.A.35556
P407
P577
2012-08-17T00:00:00Z