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.

Afiliación

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 en En | MEDLINE | ID: mdl-37916192

Palabras clave

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 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Front Mol Biosci Año: 2023 Tipo del documento: Article País de afiliación: Polonia Pais de publicación: Suiza

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