First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review.

Song, Ari; Im, Minji; Kim, Min-Sun; Noh, Eu Seon; Kim, Chiwoo; Jang, Jahyun; Lee, Sae-Mi; Ki, Chang-Seok; Cho, Sung Yoon; Jin, Dong-Kyu

Song, Ari; Im, Minji; Kim, Min-Sun; Noh, Eu Seon; Kim, Chiwoo; Jang, Jahyun; Lee, Sae-Mi; Ki, Chang-Seok; Cho, Sung Yoon; Jin, Dong-Kyu.

Afiliação

Song A; Department of Pediatrics, Incheon Sejong Hospital, Incheon, Korea.
Im M; Department of Pediatrics, Sungae Hospital, Seoul, Korea.
Kim MS; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Noh ES; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Kim C; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Jang J; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Lee SM; Green Cross Genome, Yongin, Korea.
Ki CS; Department of Laboratory Medicine, Kangwon National University School of Medicine, Chuncheon, Korea.
Cho SY; Green Cross Genome, Yongin, Korea.
Jin DK; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Ann Pediatr Endocrinol Metab ; 28(1): 67-72, 2023 Mar.

Article em En | MEDLINE | ID: mdl-35038833

Palavras-chave

Coffin-Lowry syndrome; Developmental delay; RPS6KA3; Short stature; X-linked inheritance

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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies Idioma: En Revista: Ann Pediatr Endocrinol Metab Ano de publicação: 2023 Tipo de documento: Article

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