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Marfanoid–progeroid–lipodystrophy syndrome: a newly recognized fibrillinopathy
We review six previous reports between 2000 and 2014 of seven unrelated patients with mutations in the FBN1 gene affecting function. All mutations occurred in exon 64 of the FBN1 gene. A distinctive phenotype consisting of partial manifestations of Marfan syndrome, a progeroid facial appearance, and...
Gorde:
| Argitaratua izan da: | Eur J Hum Genet |
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| Egile Nagusiak: | , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Nature Publishing Group
2016
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4989216/ https://ncbi.nlm.nih.gov/pubmed/26860060 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.6 |
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