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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...
Uloženo v:
| Vydáno v: | Eur J Hum Genet |
|---|---|
| Hlavní autoři: | , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Nature Publishing Group
2016
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| Témata: | |
| On-line přístup: | 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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