Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia
JOURNAL OF MEDICAL GENETICS, cilt.48, sa.6, ss.417-421, 2011 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 48 Sayı: 6
- Basım Tarihi: 2011
- Doi Numarası: 10.1136/jmg.2010.087544
- Dergi Adı: JOURNAL OF MEDICAL GENETICS
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.417-421
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Evet
Özet
Background Geleophysic dysplasia (GD, OMIM 231050) is an autosomal recessive disorder characterised by short stature, small hands and feet, stiff joints, and thick skin. Patients often present with a progressive cardiac valvular disease which can lead to an early death. In a previous study including six GD families, we have mapped the disease gene on chromosome 9q34.2 and identified mutations in the A Disintegrin And Metalloproteinase with Thrombospondin repeats-like 2 gene (ADAMTSL2).