A Boy with Sandestig-Stefanova Syndrome and Genital Abnormalities.

Korulmaz, Ali; Baser, Burak; Alakaya, Mehmet; Arslanköylü, Ali Ertug

Korulmaz, Ali; Baser, Burak; Alakaya, Mehmet; Arslanköylü, Ali Ertug.

Afiliação

Korulmaz A; Pediatric Intensive Care Unit, Kocaeli Derince Training and Research Hospital, Kocaeli, Turkey.
Baser B; Mersin City Hospital, Mersin, Turkey.
Alakaya M; Pediatric Intensive Care Unit, Faculty of Medicine, Mersin University, Mersin, Turkey.
Arslanköylü AE; Pediatric Intensive Care Unit, Faculty of Medicine, Mersin University, Mersin, Turkey.

Mol Syndromol ; 13(4): 343-349, 2022 Jul.

Article em En | MEDLINE | ID: mdl-36158057

Palavras-chave

Hypotonia; Microcephaly; Mutation; NUP188 gene; Sandestig-Stefanova syndrome

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Mol Syndromol Ano de publicação: 2022 Tipo de documento: Article

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