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Eye Abnormalities in Fryns Syndrome
Fryns syndrome is a rare, generally lethal, autosomal recessive multiple congenital anomaly (MCA) syndrome first described in 1979. Patients with the syndrome present with the classical findings of cloudy cornea, brainmalformations, diaphragmaticdefects, and distal limb deformities. Over 70 patients...
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| Publicado no: | Am J Med Genet A |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2004
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6719310/ https://ncbi.nlm.nih.gov/pubmed/14994236 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.20520 |
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