Hereditary Sensory and Autonomic Neuropathy 2B Caused by a Novel RETREG1 Mutation (c.765dupT) and Paternal Uniparental Isodisomy of Chromosome 5

Hereditary sensory and autonomic neuropathy (HSAN) 2B is a rare disease and has been reported mostly in offspring of consanguineous parents. Here we report the case of a patient born to non-consanguineous parents who was diagnosed with HSAN 2B caused due to a novel frameshift mutation (NM_001034850....

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Detalles Bibliográficos
Autores principales: Park, Geun-Young, Jang, Dae-Hyun, Lee, Dong-Woo, Jang, Ja-Hyun, Joo, Joungsu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6837162/
https://www.ncbi.nlm.nih.gov/pubmed/31737055
http://dx.doi.org/10.3389/fgene.2019.01085

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6837162/
https://www.ncbi.nlm.nih.gov/pubmed/31737055
http://dx.doi.org/10.3389/fgene.2019.01085

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