A Second Patient With Tsukahara Syndrome: Type A1 Brachydactyly, Short Stature, Hearing Loss, Microcephaly, Mental Retardation, and Ptosis
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no.4, pp.947-949, 2010 (SCI-Expanded)
Article / Article
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Science Citation Index Expanded (SCI-EXPANDED), Scopus
Acibadem Mehmet Ali Aydinlar University Affiliated:
In 1989, Tsukahara and colleagues described a single female with a provisionally unique pattern of malformation consisting of low intelligence, short stature, brachydactyly type A1, and characteristic facial features. We report on a second patient confirming Tsukahara syndrome as an established entity. (C) 2010 Wiley-Liss, Inc.