Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings

Mandibuloacral dysplasia (MAD) is a rare autosomal recessive progeroid syndrome, characterized by mandibular hypoplasia, acroosteolysis affecting distal phalanges and clavicles, delayed closure of the cranial sutures, atrophic skin, and lipodystrophy. Recently, mutations in lamin A/C (LMNA) and zinc...

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Autori principali: Miyoshi, Y, Akagi, M, Agarwal, AK, Namba, N, Kato-Nishimura, K, Mohri, I, Yamagata, M, Nakajima, S, Mushiake, S, Shima, M, Auchus, RJ, Taniike, M, Garg, A, Ozono, K
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2008
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2732118/
https://ncbi.nlm.nih.gov/pubmed/18435794
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-0004.2008.00992.x
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