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Pfeiffer syndrome: Clinical and genetic findings in five Brazilian families
Pfeiffer syndrome (PS) is mainly characterized by craniosysnostosis, midface hypoplasia, great toes with partial syndactyly of the digits and broad and medially deviated thumbs. It is caused by allelic mutations in the fibroblast growth factor receptor 1 and 2 (FGFR1 and 2) genes. This study describ...
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| Pubblicato in: | Med Oral Patol Oral Cir Bucal |
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| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Medicina Oral S.L.
2015
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4320421/ https://ncbi.nlm.nih.gov/pubmed/25129254 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4317/medoral.20032 |
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