A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say–Barber–Biesecker–Young

Artigo Revisado por pares

A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say–Barber–Biesecker–Young–Simpson syndrome

2019; Lippincott Williams & Wilkins; Volume: 29; Issue: 1 Linguagem: Inglês

10.1097/mcd.0000000000000270

ISSN

1473-5717

Autores

Rodrigo Mendez, Marisol Delea, Liliana Daín, Mónica Rittler,

Tópico(s)

Genomics and Chromatin Dynamics

Resumo

aDepartment of Medical Genetics bDepartment of Molecular Genetics, Centro Nacional de Genética Médica, ANLIS cDepartment of Medical Genetics, Hospital Materno Infantil "Ramón Sardá", Buenos Aires, Argentina. Received 11 November 2018 Accepted 19 February 2019 Correspondence to Rodrigo Mendez, MD, Department of Medical Genetics, Centro Nacional de Genética Médica, 2670 Av. Gral. Las Heras, C1425, Buenos Aires, Argentina. Tel: +54 11 4801 2326; fax: +54 11 4801-2326. e-mail: [email protected]

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A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say–Barber–Biesecker–Young–Simpson syndrome