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, ss.533-538, 2012 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 49 Konu: 8
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1136/jmedgenet-2012-101039
  • Dergi Adı: JOURNAL OF MEDICAL GENETICS
  • Sayfa Sayıları: ss.533-538

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.