Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 158A, Issue 11, Pages 2953-2955Publisher
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.35623
Keywords
Cornelia de Lange syndrome; ectrodactyly; p63; NIPBL; split hand; split foot
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We report on a boy with clinical and molecular diagnosis of Cornelia de Lange syndrome (CdLS). Besides the CdLS typical features, he shows split hand and split feet. To the best of our knowledge, only one other patient with similar finding has been reported in CdLS patients. (c) 2012 Wiley Periodicals, Inc.
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