A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism.
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Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.Adult neuropsychiatric expression and familial segregation of 2q13 duplicationsA recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms.Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsySmall rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development.Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays.A de novo 10.79 Mb interstitial deletion at 2q13q14.2 involving PAX8 causing hypothyroidism and mullerian agenesis: a novel case report and literature review.Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations.Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes.Prenatal diagnosis of susceptibility loci for neurodevelopmental disorders - genetic counseling and pregnancy outcome in 57 cases.Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.Array-CGH in children with mild intellectual disability: a population-based study.Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects.An atypical autistic phenotype associated with a 2q13 microdeletion: a case report.Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.
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P2860
A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 07 February 2011
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
A recurrent 1.71 Mb genomic im ...... pmental delay and dysmorphism.
@en
A recurrent 1.71 Mb genomic im ...... pmental delay and dysmorphism.
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type
label
A recurrent 1.71 Mb genomic im ...... pmental delay and dysmorphism.
@en
A recurrent 1.71 Mb genomic im ...... pmental delay and dysmorphism.
@nl
prefLabel
A recurrent 1.71 Mb genomic im ...... pmental delay and dysmorphism.
@en
A recurrent 1.71 Mb genomic im ...... pmental delay and dysmorphism.
@nl
P2093
P2860
P1433
P1476
A recurrent 1.71 Mb genomic im ...... pmental delay and dysmorphism.
@en
P2093
P2860
P304
P356
10.1111/J.1399-0004.2011.01637.X
P577
2011-02-07T00:00:00Z