Your browser doesn't support javascript.
loading
Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.
Efthymiou, Stephanie; Herman, Isabella; Rahman, Fatima; Anwar, Najwa; Maroofian, Reza; Yip, Janice; Mitani, Tadahiro; Calame, Daniel G; Hunter, Jill V; Sutton, V Reid; Yilmaz Gulec, Elif; Duan, Ruizhi; Fatih, Jawid M; Marafi, Dana; Pehlivan, Davut; Jhangiani, Shalini N; Gibbs, Richard A; Posey, Jennifer E; Maqbool, Shazia; Lupski, James R; Houlden, Henry.
Afiliação
  • Efthymiou S; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
  • Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
  • Rahman F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Anwar N; Texas Children's Hospital, Houston, Texas, USA.
  • Maroofian R; Development and Behavioural Pediatrics Department, Institute of Child Health and The Children Hospital, Lahore, Pakistan.
  • Yip J; Development and Behavioural Pediatrics Department, Institute of Child Health and The Children Hospital, Lahore, Pakistan.
  • Mitani T; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
  • Calame DG; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
  • Hunter JV; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Sutton VR; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
  • Yilmaz Gulec E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Duan R; Texas Children's Hospital, Houston, Texas, USA.
  • Fatih JM; Division of Neuroradiology, Edward B. Singleton Department of Radiology, Texas Children's Hospital, Houston, Texas, USA.
  • Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Pehlivan D; Texas Children's Hospital, Houston, Texas, USA.
  • Jhangiani SN; Department of Medical Genetics, Health Sciences University, Istanbul Kanuni Sultan Suleyman Research and Training Hospital, Istanbul, Turkey.
  • Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Maqbool S; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait.
  • Lupski JR; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
  • Houlden H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Am J Med Genet A ; 185(7): 2241-2249, 2021 07.
Article em En | MEDLINE | ID: mdl-33964184
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteogênese Imperfeita / Predisposição Genética para Doença / Proteínas de Transporte Vesicular / Transtornos do Neurodesenvolvimento Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteogênese Imperfeita / Predisposição Genética para Doença / Proteínas de Transporte Vesicular / Transtornos do Neurodesenvolvimento Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Reino Unido