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Congenital Cataracts – Facial Dysmorphism – Neuropathy

Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance. To date, CCFDN has been found to occur exclusively in patients of Roma (Gypsy) ethnicity; over 100 patients have been diagnosed. Developmental abnormalities inc...

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Autor principal: Kalaydjieva, Luba
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2006
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1563997/
https://ncbi.nlm.nih.gov/pubmed/16939648
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-1-32
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