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A founder PPIL1 variant underlies a recognizable form of microlissencephaly with pontocerebellar hypoplasia.
Abdel-Salam, Ghada M H; Abdel-Hamid, Mohamed S.
Affiliation
  • Abdel-Salam GMH; Clinical 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.
Clin Genet ; 104(3): 356-364, 2023 09.
Article in En | MEDLINE | ID: mdl-37190898

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain Diseases / Cerebellar Diseases / Dandy-Walker Syndrome / Microcephaly Limits: Humans Language: En Journal: Clin Genet Year: 2023 Document type: Article Affiliation country: Egypt Country of publication: Denmark

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain Diseases / Cerebellar Diseases / Dandy-Walker Syndrome / Microcephaly Limits: Humans Language: En Journal: Clin Genet Year: 2023 Document type: Article Affiliation country: Egypt Country of publication: Denmark