Á lódáil...
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...
Na minha lista:
| Foilsithe in: | Eur J Hum Genet |
|---|---|
| Main Authors: | , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
Nature Publishing Group
2016
|
| Ábhair: | |
| Rochtain Ar Líne: | 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 |
| Clibeanna: |
Cuir Clib Leis
Gan Chlibeanna, Bí ar an gcéad duine leis an taifead seo a chlibeáil!
|