A novel ALMS1 homozygous mutation in two Turkish brothers with Alstrom syndrome


Laxer C., Rahman S. A. , Sherif M., Tahir S., Cayir A., Demirbilek H. , ...Daha Fazla

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.29, sa.5, ss.585-589, 2016 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 29 Konu: 5
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1515/jpem-2015-0249
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Sayfa Sayıları: ss.585-589

Özet

Background: Alstrom syndrome (AS) is an extremely rare, autosomal recessive disorder characterised by multi-organ features that typically manifest within the first two decades of life. AS is caused by mutations in the Alstrom syndrome 1 (ALMS1) gene located at 2p13.1.