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Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta.
Nampoothiri, Sheela; Guillemyn, Brecht; Elcioglu, Nursel; Jagadeesh, Sujatha; Yesodharan, Dhanya; Suresh, Beena; Turan, Serap; Symoens, Sofie; Malfait, Fransiska.
Afiliação
  • Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Cochin, Kerala, India.
  • Guillemyn B; Department of Biomolecular Medicine, Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.
  • Elcioglu N; Department of Pediatric Genetics, Marmara University Medical School, Istanbul, Turkey.
  • Jagadeesh S; Department of Medicine, Eastern Mediterranean University Medical School, Mersin, Turkey.
  • Yesodharan D; Department of Clinical Genetics, Mediscan Systems, Chennai, Tamil Nadu, India.
  • Suresh B; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Cochin, Kerala, India.
  • Turan S; Department of Clinical Genetics, Mediscan Systems, Chennai, Tamil Nadu, India.
  • Symoens S; Department of Pediatric Endocrinology, Marmara University Medical School, Istanbul, Turkey.
  • Malfait F; Department of Biomolecular Medicine, Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.
Am J Med Genet A ; 179(6): 908-914, 2019 06.
Article em En | MEDLINE | ID: mdl-30896082
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteogênese Imperfeita / Blefaroptose / Proteína Wnt1 / Estudos de Associação Genética / Genes Recessivos / Mutação Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteogênese Imperfeita / Blefaroptose / Proteína Wnt1 / Estudos de Associação Genética / Genes Recessivos / Mutação Idioma: En Ano de publicação: 2019 Tipo de documento: Article