Your browser doesn't support javascript.
loading
A Novel Frameshift CASK Variant in a 6-Month-Old Korean Female Infant with Global Developmental Delay, Progressive Microcephaly, and Pontocerebellar Hypoplasia: A Case Report.
Ahn, Jeong Ho; Oh, Seung Hwan; Park, Ji Kyoung; Kim, Kwang Hoon; Lee, Jeong Eun; Chung, Woo Yeong; Lee, Keun Soo; Seo, Go Hun; Lee, Bo Lyun.
Afiliação
  • Ahn JH; Department of Pediatrics, Busan Paik Hospital, Inje University College of Medicine, Busan.
  • Oh SH; Department of Laboratory Medicine, Pusan National University Yangsan Hospital, Yangsan.
  • Park JK; Department of Pediatrics, Busan Paik Hospital, Inje University College of Medicine, Busan.
  • Kim KH; Department of Pediatrics, Busan Paik Hospital, Inje University College of Medicine, Busan.
  • Lee JE; Department of Pediatrics, Busan Paik Hospital, Inje University College of Medicine, Busan.
  • Chung WY; Department of Pediatrics, Busan Paik Hospital, Inje University College of Medicine, Busan.
  • Lee KS; Department of Neurosurgery, Busan Paik Hospital, Inje University College of Medicine, Busan.
  • Seo GH; Division of Medical Genetics, 3billion Inc., Seoul, Korea.
  • Lee BL; Department of Pediatrics, Busan Paik Hospital, Inje University College of Medicine, Busan bototii@paik.ac.kr.
Ann Clin Lab Sci ; 52(3): 488-493, 2022 May.
Article em En | MEDLINE | ID: mdl-35777792
Assuntos
Palavras-chave
Buscar no Google
Imprimir
XML
PubMed Links

Base de dados: MEDLINE Assunto principal: Microcefalia Limite: Female / Humans País como assunto: Asia Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Buscar no Google
Imprimir
XML
PubMed Links

Base de dados: MEDLINE Assunto principal: Microcefalia Limite: Female / Humans País como assunto: Asia Idioma: En Ano de publicação: 2022 Tipo de documento: Article