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 (Journal Indexed in SCI)
Article / Article
Title of Journal :
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
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.