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Review
. 2010 Aug;152A(8):2057-60.
doi: 10.1002/ajmg.a.33505.

Giuffrè-Tsukahara Syndrome: Evidence for X-linked Dominant Inheritance and Review

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Review

Giuffrè-Tsukahara Syndrome: Evidence for X-linked Dominant Inheritance and Review

Ashwin B Dalal et al. Am J Med Genet A. .

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.

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