Avtor/Urednik		Medica, I; Sepcic, J; Peterlin, B
Naslov		Woodhouse-Sakati syndrome: case report and symptoms review
Tip		članek
Vir		Genet Couns
Vol. in št.		Letnik 18, št. 2
Leto izdaje		2007
Obseg		str. 227-31
Jezik		eng
Abstrakt		We report on a 52-year old Caucasian woman exhibiting signs of Woodhouse - Sakati syndrome and review the clinical signs and symptoms in patients reported so far. The syndrome is characterized by alopecia, mental retardation, hypogonadism, diabetes mellitus, hearing impairment, ECG changes, and by autosomal recessive inheritance. We also propose that the limited mobility of the upper extremities is one of the features of the syndrome.