A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia.

Holling, Tess; Abdelrazek, Ibrahim M; Elhady, Ghada M; Abd Elmaksoud, Marwa; Ryu, Seung Woo; Abdalla, Ebtesam; Kutsche, Kerstin

Holling, Tess; Abdelrazek, Ibrahim M; Elhady, Ghada M; Abd Elmaksoud, Marwa; Ryu, Seung Woo; Abdalla, Ebtesam; Kutsche, Kerstin.

Afiliação

Holling T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Abdelrazek IM; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.
Elhady GM; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.
Abd Elmaksoud M; Neurology Unit, Pediatric Department, Faculty of Medicine, Alexandria University, Alexandria, Egypt.
Ryu SW; 3billion Inc., Seoul, South Korea.
Abdalla E; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.
Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. kkutsche@uke.de.

J Hum Genet ; 2024 Jul 31.

Article em En | MEDLINE | ID: mdl-39085459

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Texto completo: 1 Bases de dados: MEDLINE Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Alemanha

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