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Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China

Mandibuloacral dysplasia type A (MADA) is a rare autosomal recessive disorder, characterized by growth retardation, skeletal abnormality with progressive osteolysis of the distal phalanges and clavicles, craniofacial anomalies with mandibular hypoplasia, lipodystrophy and mottled cutaneous pigmentation. | Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China