A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia.

Kalmár, Tibor; Szakszon, Katalin; Maróti, Zoltán; Zimmermann, Alíz; Máté, Adrienn; Zombor, Melinda; Bereczki, Csaba; Sztriha, László

Kalmár, Tibor; Szakszon, Katalin; Maróti, Zoltán; Zimmermann, Alíz; Máté, Adrienn; Zombor, Melinda; Bereczki, Csaba; Sztriha, László.

Afiliação

Kalmár T; Department of Pediatrics, University of Szeged, Szeged, Hungary.
Szakszon K; Department of Pediatrics, University of Debrecen, Debrecen, Hungary.
Maróti Z; Department of Pediatrics, University of Szeged, Szeged, Hungary.
Zimmermann A; Department of Pediatrics, University of Szeged, Szeged, Hungary.
Máté A; Department of Pediatrics, University of Szeged, Szeged, Hungary.
Zombor M; Department of Pediatrics, University of Szeged, Szeged, Hungary.
Bereczki C; Department of Pediatrics, University of Szeged, Szeged, Hungary.
Sztriha L; Department of Pediatrics, University of Szeged, Szeged, Hungary.

J Pediatr Genet ; 10(2): 159-163, 2021 Jun.

Article em En | MEDLINE | ID: mdl-33996189

Palavras-chave

WDR81 mutation; microlissencephaly; pontocerebellar hypoplasia

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Revista: J Pediatr Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Hungria

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