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Case Reports
. 2010 Apr;152A(4):947-9.
doi: 10.1002/ajmg.a.33325.

A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis

Gülen Eda Utine  1 , Jeroen Breckpot, Bernard Thienpont, Yasemin Alanay, Cemalettin Aksoy, Koray Boduroğlu, Koenraad Devriendt
Affiliations
Case Reports

A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis

Gülen Eda Utine et al. Am J Med Genet A. 2010 Apr.

Abstract

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.

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