Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis


Schrauwen I., Valgaeren H., Tomas-Roca L., Sommen M., Altunoglu U. , Wesdorp M., ...Daha Fazla

GENETICS IN MEDICINE, cilt.21, ss.1199-1208, 2019 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 21 Konu: 5
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1038/s41436-018-0300-5
  • Dergi Adı: GENETICS IN MEDICINE
  • Sayfa Sayıları: ss.1199-1208

Özet

Purpose: To characterize new molecular factors implicated in a hereditary congenital facial paresis (HCFP) family and otosclerosis.