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.
A new report of Cornelia de Lange syndrome associated with split hand and feet / C. Barboni, A. Cereda, M. Mariani, C. Gervasini, P. Ajmone, A. Biondi, A. Selicorni. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4825. - 158A:11(2012 Nov), pp. 2953-2955.
Titolo: | A new report of Cornelia de Lange syndrome associated with split hand and feet |
Autori: | |
Parole Chiave: | Cornelia de Lange syndrome; Ectrodactyly; NIPBL; P63; Split foot; Split hand |
Settore Scientifico Disciplinare: | Settore MED/03 - Genetica Medica |
Data di pubblicazione: | nov-2012 |
Rivista: | |
Tipologia: | Article (author) |
Digital Object Identifier (DOI): | http://dx.doi.org/10.1002/ajmg.a.35623 |
Appare nelle tipologie: | 01 - Articolo su periodico |
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