A new report of Cornelia de Lange syndrome associated with split hand and feet

Articolo
Data di Pubblicazione:
2012
Citazione:
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. [10.1002/ajmg.a.35623]
Abstract:
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.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Cornelia de Lange syndrome; Ectrodactyly; NIPBL; P63; Split foot; Split hand
Elenco autori:
C. Barboni, A. Cereda, M. Mariani, C. Gervasini, P. Ajmone, A. Biondi, A. Selicorni
Autori di Ateneo:
GERVASINI CRISTINA COSTANZA GIOVANNA ( autore )
Link alla scheda completa:
https://air.unimi.it/handle/2434/211217

Aree Di Ricerca

Settori


Settore MED/03 - Genetica Medica