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Familial mandibuloacral dysplasia: report of an additional Italian patient
C Tudisco1, G Canepa, G Novelli
1Cattedra di Chirurgia della Mano, Università degli Studi di Roma "Tor Vergata," Rome, Italy. cosimo.tudisco@uniroma2.it
American Journal of Medical Genetics
|September 20, 2000
Abstract:
Mandibuloacral dysplasia is a rare condition. Only 11 families have been reported and five of them were Italian, while consanguinity was found only in one report. We describe an additional Italian patient born from consanguineous parents.