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    Am J Med Genet A. 2010 Aug;152A(8):2057-60.

    Giuffrè-Tsukahara syndrome: Evidence for X-linked dominant inheritance and review.

    Source

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

    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.

    PMID:
    20635354
    [PubMed - indexed for MEDLINE]

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