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A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature.
Cheon, Chong Kun; Lee, Hoon Sang; Kim, Su Yung; Kwak, Min Jung; Kim, Gu-Hwan; Yoo, Han-Wook.
Afiliação
  • Cheon CK; Department of Pediatrics, Pusan National University Children's Hospital, Pusan National University School of Medicine, Yangsan, Korea.
  • Lee HS; Department of Pediatrics, Pusan National University Children's Hospital, Pusan National University School of Medicine, Yangsan, Korea.
  • Kim SY; Department of Pediatrics, Pusan National University Children's Hospital, Pusan National University School of Medicine, Yangsan, Korea.
  • Kwak MJ; Department of Pediatrics, Pusan National University Hospital, Pusan National University School of Medicine, Busan, Korea.
  • Kim GH; Medical Genetics Clinic and Laboratory, Asan Medical Center Children's Hospital, Seoul, Korea.
  • Yoo HW; Medical Genetics Clinic and Laboratory, Asan Medical Center Children's Hospital, Seoul, Korea.
Ann Pediatr Endocrinol Metab ; 19(1): 36-41, 2014 Mar.
Article em En | MEDLINE | ID: mdl-24926462
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Ann Pediatr Endocrinol Metab Ano de publicação: 2014 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Ann Pediatr Endocrinol Metab Ano de publicação: 2014 Tipo de documento: Article