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. (C) 2000 Wiley-Liss, Inc.

Tudisco, C., Canepa, G., Novelli, G., Dallapiccola, B. (2000). Familial mandibuloacral dysplasia: report of an additional Italian patient. AMERICAN JOURNAL OF MEDICAL GENETICS, 94(3), 237-241 [10.1002/1096-8628(20000918)94:3<237::AID-AJMG10>3.0.CO;2-9].

Familial mandibuloacral dysplasia: report of an additional Italian patient

TUDISCO, COSIMO;NOVELLI, GIUSEPPE;
2000-09-01

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. (C) 2000 Wiley-Liss, Inc.
set-2000
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore MED/33 - MALATTIE APPARATO LOCOMOTORE
English
acroosteolysis; autosomal recessive; clavicle hypoplasia; mandibular hypoplasia; mandibulo-acral dysplasia
Tudisco, C., Canepa, G., Novelli, G., Dallapiccola, B. (2000). Familial mandibuloacral dysplasia: report of an additional Italian patient. AMERICAN JOURNAL OF MEDICAL GENETICS, 94(3), 237-241 [10.1002/1096-8628(20000918)94:3<237::AID-AJMG10>3.0.CO;2-9].
Tudisco, C; Canepa, G; Novelli, G; Dallapiccola, B
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/50688
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