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Giuffrè–Tsukahara syndrome: Evidence for X‐linked dominant inheritance and review
Author(s) -
Dalal Ashwin B.,
Sarkar Anujit,
Priya T. Padma,
Nandineni Madhusudan R.
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33505
Subject(s) - inheritance (genetic algorithm) , genetics , biology , gene
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. © 2010 Wiley‐Liss, Inc.