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

BACKGROUND: 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 cutaneo...

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Detalles Bibliográficos
Publicado en:BMC Pediatr
Main Authors: Luo, Di-Qing, Wang, Xiao-Zhu, Meng, Yan, He, Ding-Yang, Chen, Ying-Ming, Ke, Zhi-Yong, Yan, Ming, Huang, Yu, Chen, Da-Fang
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2014
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4287574/
https://ncbi.nlm.nih.gov/pubmed/25286833
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2431-14-256
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