Dalal, Ashwin and Sarkar, A. and Padma Priya, T. and Nandineni, M.R. (2010) Giuffrè-Tsukahara syndrome: Evidence for X-linked dominant inheritance and review. American Journal of Medical Genetics Part A, 152A (8). pp. 2057-2060. ISSN 1552-4825

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Abstract

We report on a girl with Giuffrè-Tsukahara syndrome manifesting microcephaly, mental retardation, radio-ulnar synostosis, short stature and scoliosis. Skewed X-inactivation was not observed in our patient. We reviewed previous reports and provide evidence in support of X-linked dominant inheritance of this condition.

Item Type:	Article
Depositing User:	Users 2 not found.
Date Deposited:	01 Sep 2015 04:48
Last Modified:	16 Dec 2015 08:08
URI:	http://cdfd.sciencecentral.in/id/eprint/419

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