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Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India. ashwindalal@gmail.com
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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