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Intrafamilial variability of XYLT2-related spondyloocular syndrome.
Guleray, Naz; Simsek Kiper, Pelin Ozlem; Utine, Gulen Eda; Boduroglu, Koray; Alikasifoglu, Mehmet.
Afiliação
  • Guleray N; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey. Electronic address: nazguleray@hacettepe.edu.tr.
  • Simsek Kiper PO; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Utine GE; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Boduroglu K; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Alikasifoglu M; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Eur J Med Genet ; 62(11): 103585, 2019 Nov.
Article em En | MEDLINE | ID: mdl-30496831
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Osteoporose / Pentosiltransferases / Catarata / Descolamento Retiniano / Oftalmopatias Hereditárias / Anormalidades Craniofaciais / Anormalidades Musculoesqueléticas Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Osteoporose / Pentosiltransferases / Catarata / Descolamento Retiniano / Oftalmopatias Hereditárias / Anormalidades Craniofaciais / Anormalidades Musculoesqueléticas Idioma: En Ano de publicação: 2019 Tipo de documento: Article