Cargando…
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...
Autor principal: | Kalaydjieva, Luba |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2006
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1563997/ https://www.ncbi.nlm.nih.gov/pubmed/16939648 http://dx.doi.org/10.1186/1750-1172-1-32 |
Ejemplares similares
-
Cognitive Impairment and Brain Imaging Characteristics of Patients with Congenital Cataracts, Facial Dysmorphism, Neuropathy Syndrome
por: Chamova, Teodora, et al.
Publicado: (2015) -
Anesthesia of a patient with congenital cataract, facial dysmorphism, and neuropathy syndrome for posterior scoliosis: A case report
por: Hudec, Jan, et al.
Publicado: (2022) -
Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech gypsy children – frequent and underestimated cause of disability among Czech gypsies
por: Lassuthova, Petra, et al.
Publicado: (2014) -
Genetic studies of the Roma (Gypsies): a review
por: Kalaydjieva, Luba, et al.
Publicado: (2001) -
Genetic of preimplantation diagnosis of dysmorphic facial features and intellectual developmental disorder (CHDFIDD) without congenital heart defects
por: Cui, Xiangrong, et al.
Publicado: (2022)