A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay.

Ozantürk, Aysegül; Davis, Erica E; Sabo, Aniko; Weiss, Marjan M; Muzny, Donna; Dugan-Perez, Shannon; Sistermans, Erik A; Gibbs, Richard A; Özgül, Köksal R; Yalnizoglu, Dilek; Serdaroglu, Esra; Dursun, Ali; Katsanis, Nicholas

Ozantürk, Aysegül; Davis, Erica E; Sabo, Aniko; Weiss, Marjan M; Muzny, Donna; Dugan-Perez, Shannon; Sistermans, Erik A; Gibbs, Richard A; Özgül, Köksal R; Yalnizoglu, Dilek; Serdaroglu, Esra; Dursun, Ali; Katsanis, Nicholas.

Afiliación

Ozantürk A; Department of Pediatrics, Metabolism Unit, Hacettepe University, Ankara 06410, Turkey;; Department of Biology, Molecular Biology Section, Hacettepe University, Ankara 06800, Turkey;; Center for Human Disease Modeling, Duke University, Durham, North Carolina 27701, USA;
Davis EE; Center for Human Disease Modeling, Duke University, Durham, North Carolina 27701, USA;
Sabo A; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 77030, USA;
Weiss MM; Department of Clinical Genetics, VU University Medical Center (Amsterdam), NL-1081 HV Amsterdam, The Netherlands;
Muzny D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 77030, USA;
Dugan-Perez S; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 77030, USA;
Sistermans EA; Department of Clinical Genetics, VU University Medical Center (Amsterdam), NL-1081 HV Amsterdam, The Netherlands;
Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 77030, USA;
Özgül KR; Department of Pediatrics, Metabolism Unit, Hacettepe University, Ankara 06410, Turkey;
Yalnizoglu D; Department of Pediatrics, Pediatric Neurology Unit, Hacettepe University, Ankara 06410, Turkey.
Serdaroglu E; Department of Pediatrics, Pediatric Neurology Unit, Hacettepe University, Ankara 06410, Turkey.
Dursun A; Department of Pediatrics, Metabolism Unit, Hacettepe University, Ankara 06410, Turkey;
Katsanis N; Center for Human Disease Modeling, Duke University, Durham, North Carolina 27701, USA;

Cold Spring Harb Mol Case Stud ; 2(2): a000703, 2016 Mar.

Article en En | MEDLINE | ID: mdl-27148584

Palabras clave

cat cry; central hypotonia; clubbing of toes; delayed gross motor development; down-sloping shoulders; enlarged proximal interphalangeal joints; high, narrow palate; intellectual disability, profound; micropenis; moderately short stature; penile hypospadias; pes planus; prominent forehead; thin upper lip vermilion; wide nasal bridge

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: Cold Spring Harb Mol Case Stud Año: 2016 Tipo del documento: Article

Texto completo

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: Cold Spring Harb Mol Case Stud Año: 2016 Tipo del documento: Article