A Second Patient With Tsukahara Syndrome: Type A1 Brachydactyly, Short Stature, Hearing Loss, Microcephaly, Mental Retardation, and Ptosis

ÜTİNE, GÜLEN; Breckpot, Jeroen; Thienpont, Bernard; ALANAY, Yasemin; Aksoy, Cemalettin; BODUROĞLU, OSMAN; Devriendt, Koenraad

doi:10.1002/ajmg.a.33325

A Second Patient With Tsukahara Syndrome: Type A1 Brachydactyly, Short Stature, Hearing Loss, Microcephaly, Mental Retardation, and Ptosis

ÜTİNE G. E., Breckpot J., Thienpont B., ALANAY Y., Aksoy C., BODUROĞLU O. K., ...Daha Fazla

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, sa.4, ss.947-949, 2010 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: Sayı: 4
Basım Tarihi: 2010
Doi Numarası: 10.1002/ajmg.a.33325
Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.947-949
Hacettepe Üniversitesi Adresli: Evet

Özet

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.