SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss.

Buchert, Rebecca; Nesbitt, Addie I; Tawamie, Hasan; Krantz, Ian D; Medne, Livija; Helbig, Ingo; Matalon, Dena R; Reis, André; Santani, Avni; Sticht, Heinrich; Abou Jamra, Rami

Buchert, Rebecca; Nesbitt, Addie I; Tawamie, Hasan; Krantz, Ian D; Medne, Livija; Helbig, Ingo; Matalon, Dena R; Reis, André; Santani, Avni; Sticht, Heinrich; Abou Jamra, Rami.

Afiliação

Buchert R; Institute of Human Genetics, Friedrich-Alexander-University Erlangen-Nuremberg, 91054, Erlangen, Germany.
Nesbitt AI; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076, Tübingen, Germany.
Tawamie H; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
Krantz ID; Institute of Human Genetics, Friedrich-Alexander-University Erlangen-Nuremberg, 91054, Erlangen, Germany.
Medne L; Division of Human Genetics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA.
Helbig I; Division of Child Neurology, Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA.
Matalon DR; Division of Neurology, The Children's Hospital of Philadelphia, 34th St. and Civic Center Blvd., Philadelphia, PA, 19104-4399, USA.
Reis A; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel Campus, Kiel, Germany.
Santani A; Division of Human Genetics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA.
Sticht H; Institute of Human Genetics, Friedrich-Alexander-University Erlangen-Nuremberg, 91054, Erlangen, Germany.
Abou Jamra R; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.

Orphanet J Rare Dis ; 11(1): 130, 2016 Sep 29.

Article em En | MEDLINE | ID: mdl-27683084

Palavras-chave

ARID; Hearing loss; Hypotonia; Microcephaly; NGS

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Reino Unido

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