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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Official URL: http://dx.doi.org/10.1002/ajmg.a.33505
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 |
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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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