Your browser doesn't support javascript.
loading
Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.
Munns, Craig F; Fahiminiya, Somayyeh; Poudel, Nabin; Munteanu, Maria Cristina; Majewski, Jacek; Sillence, David O; Metcalf, Jordan P; Biggin, Andrew; Glorieux, Francis; Fassier, François; Rauch, Frank; Hinsdale, Myron E.
Afiliação
  • Munns CF; Institute of Endocrinology and Diabetes, The Children's Hospital at Westmead, Westmead, NSW 2145, Australia.
  • Fahiminiya S; Department of Human Genetics, Faculty of Medicine, McGill University and Genome Quebec Innovation Center, Montréal, QC H3A 1B1, Canada.
  • Poudel N; Department of Physiological Sciences, Oklahoma State University, Stillwater, OK 74078, USA.
  • Munteanu MC; Department of Physiological Sciences, Oklahoma State University, Stillwater, OK 74078, USA.
  • Majewski J; Department of Human Genetics, Faculty of Medicine, McGill University and Genome Quebec Innovation Center, Montréal, QC H3A 1B1, Canada.
  • Sillence DO; Discipline of Genetic Medicine, The Children's Hospital at Westmead Clinical School, Sydney Medicine, Westmead, NSW 2145, Australia.
  • Metcalf JP; Department of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73126, USA.
  • Biggin A; Institute of Endocrinology and Diabetes, The Children's Hospital at Westmead, Westmead, NSW 2145, Australia.
  • Glorieux F; Shriners Hospital for Children, Montréal, QC H3G 1A6, Canada.
  • Fassier F; Shriners Hospital for Children, Montréal, QC H3G 1A6, Canada.
  • Rauch F; Shriners Hospital for Children, Montréal, QC H3G 1A6, Canada.
  • Hinsdale ME; Department of Physiological Sciences, Oklahoma State University, Stillwater, OK 74078, USA; Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73126, USA. Electronic address: myron.hinsdale@okstate.edu.
Am J Hum Genet ; 96(6): 971-8, 2015 Jun 04.
Article em En | MEDLINE | ID: mdl-26027496
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Pentosiltransferases / Catarata / Descolamento Retiniano / Oftalmopatias Hereditárias / Mutação da Fase de Leitura / Anormalidades Craniofaciais / Homozigoto Tipo de estudo: Diagnostic_studies Limite: Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Austrália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Pentosiltransferases / Catarata / Descolamento Retiniano / Oftalmopatias Hereditárias / Mutação da Fase de Leitura / Anormalidades Craniofaciais / Homozigoto Tipo de estudo: Diagnostic_studies Limite: Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Austrália