Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech gypsy children – frequent and underestimated cause of disability among Czech gypsies

BACKGROUND: Congenital Cataract Facial Dysmorphism and demyelinating Neuropathy (CCFDN, OMIM 604468) is an autosomal recessive multi-system disorder which was first described in Bulgarian Gypsies in 1999. It is caused by the homozygous founder mutation c.863 + 389C > T in the CTDP1 gene. The synd...

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Detalles Bibliográficos
Autores principales: Lassuthova, Petra, Šišková, Dana, Haberlová, Jana, Sakmaryová, Iva, Filouš, Aleš, Seeman, Pavel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3976362/
https://www.ncbi.nlm.nih.gov/pubmed/24690360
http://dx.doi.org/10.1186/1750-1172-9-46

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3976362/
https://www.ncbi.nlm.nih.gov/pubmed/24690360
http://dx.doi.org/10.1186/1750-1172-9-46

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