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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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| 出版年: | BMC Pediatr |
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| 主要な著者: | , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2014
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| 主題: | |
| オンライン･アクセス: | 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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