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A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasia.
Abdel-Salam, Ghada M H; Girgis, Marian; Eid, Maha M; Sayed, Inas S M; Abdel-Hamid, Mohamed S.
Afiliação
  • Abdel-Salam GMH; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt. ghada.abdelsalam@yahoo.com.
  • Girgis M; Pediatric Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
  • Eid MM; Human Cytogenetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
  • Sayed ISM; Orodental Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
  • Abdel-Hamid MS; Medical Molecular Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
J Hum Genet ; 67(11): 669-673, 2022 Nov.
Article em En | MEDLINE | ID: mdl-35896821
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Lisencefalia / Microcefalia / Malformações do Sistema Nervoso Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Lisencefalia / Microcefalia / Malformações do Sistema Nervoso Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals Idioma: En Ano de publicação: 2022 Tipo de documento: Article