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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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| Pubblicato in: | Am J Med Genet A |
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| Autori principali: | , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2004
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| Soggetti: | |
| Accesso online: | 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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