Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.
about
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.Genetics of attention-deficit/hyperactivity disorder: an update.When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations.An update on the comorbidity of ADHD and ASD: a focus on clinical management.Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families.Behavioral and neuroanatomical analyses in a genetic mouse model of 2q13 duplication.Implication of LRRC4C and DPP6 in neurodevelopmental disorders.An atypical autistic phenotype associated with a 2q13 microdeletion: a case report.Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.
P2860
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P2860
Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.
description
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name
Recurrent deletions and duplic ...... ciated with variable outcomes.
@en
Recurrent deletions and duplic ...... ciated with variable outcomes.
@nl
type
label
Recurrent deletions and duplic ...... ciated with variable outcomes.
@en
Recurrent deletions and duplic ...... ciated with variable outcomes.
@nl
prefLabel
Recurrent deletions and duplic ...... ciated with variable outcomes.
@en
Recurrent deletions and duplic ...... ciated with variable outcomes.
@nl
P2093
P2860
P356
P1476
Recurrent deletions and duplic ...... ciated with variable outcomes.
@en
P2093
Ankita Patel
Donna M Martin
Jeffrey W Innis
John A Bernat
Kacie N Riley
Lisa M Catalano
M Katharine Rudd
Seema R Lalani
Stacie D Adams
P2860
P304
P356
10.1002/AJMG.A.37269
P407
P577
2015-07-31T00:00:00Z