Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: Case report and review of literature
about
Somatic mutation, genomic variation, and neurological diseaseA t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay.Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring.Mosaic trisomy 16: what are the obstetric and long-term childhood outcomes?
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Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: Case report and review of literature
description
article
@en
im Februar 2012 veröffentlichter wissenschaftlicher Artikel
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wetenschappelijk artikel
@nl
наукова стаття, опублікована в лютому 2012
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name
Karyotype/phenotype correlatio ...... eport and review of literature
@en
Karyotype/phenotype correlatio ...... eport and review of literature
@nl
type
label
Karyotype/phenotype correlatio ...... eport and review of literature
@en
Karyotype/phenotype correlatio ...... eport and review of literature
@nl
prefLabel
Karyotype/phenotype correlatio ...... eport and review of literature
@en
Karyotype/phenotype correlatio ...... eport and review of literature
@nl
P2093
P2860
P356
P1476
Karyotype/phenotype correlatio ...... eport and review of literature
@en
P2093
Ana C Laus
Camila C Rebelo
Jair Huber
Lucia Martelli
Lucimar A F Laureano
Silvio A Santos
Wagner A R Baratela
P2860
P304
P356
10.1002/AJMG.A.32988
P407
P577
2012-02-21T00:00:00Z