A genotype-phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus.

Sowinska-Seidler, Anna; Socha, Magdalena; Szoszkiewicz, Anna; Materna-Kiryluk, Anna; Jamsheer, Aleksander

Sowinska-Seidler, Anna; Socha, Magdalena; Szoszkiewicz, Anna; Materna-Kiryluk, Anna; Jamsheer, Aleksander.

Afiliação

Sowinska-Seidler A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
Socha M; Institute of Molecular Biology and Biotechnology, Adam Mickiewicz University, Poznan, Poland.
Szoszkiewicz A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
Materna-Kiryluk A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
Jamsheer A; Centers for Medical Genetics GENESIS, Poznan, Poland.

Front Mol Biosci ; 10: 1250714, 2023.

Article em En | MEDLINE | ID: mdl-37916192

Palavras-chave

7q21.3; BakerGordon syndrome; DLX5/6; SYT1; ectrodactyly; split-hand/foot malformation type 1; structural variants; whole-genome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Front Mol Biosci Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Polônia País de publicação: Suíça

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