PAPSS2 mutations cause autosomal recessive brachyolmia

Miyake N., Elcioglu N. H., Iida A., Isguven P., Dai J., Murakami N., ...Daha Fazla

JOURNAL OF MEDICAL GENETICS, cilt.49, sa.8, ss.533-538, 2012 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 49 Sayı: 8
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1136/jmedgenet-2012-101039
  • Dergi Adı: JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.533-538
  • Marmara Üniversitesi Adresli: Evet

Özet

Background Brachyolmia is a heterogeneous group of skeletal dysplasias that primarily affects the spine. Clinical and genetic heterogeneity have been reported; at least three types of brachyolmia are known. TRPV4 mutations have been identified in an autosomal dominant form of brachyolmia; however, disease genes for autosomal recessive (AR) forms remain totally unknown. We conducted a study on a Turkish family with an AR brachyolmia, with the aim of identifying a disease gene for AR brachyolmia.