Frequency of hereditary neuropathy with liability to pressure palsies (HNPP) due to 17p11.2 deletion in a Korean newborn population

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder mainly due to a deletion of chromosome 17p11.2 including PMP22 (PMP22 Del HNPP). The prevalence of HNPP is estimated to be 0.84 to 16 per 100,000, but could be underestimated because of the mild symptom...

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Detalles Bibliográficos
Autores principales: Park, Jong Eun, Noh, Seung-Jae, Oh, Mijin, Cho, Dae-Yeon, Kim, So Young, Ki, Chang-Seok
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5856277/
https://www.ncbi.nlm.nih.gov/pubmed/29544507
http://dx.doi.org/10.1186/s13023-018-0779-5

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