Paternal gender specificity and mild phenotypes in Charcot–Marie–Tooth type 1A patients with de novo 17p12 rearrangements

BACKGROUND: Charcot–Marie–Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are developed by duplication and deletion of the 17p12 (PMP22) region, respectively. METHODS: De novo rates were determined in 211 CMT1A or HNPP trio families, and then, analyz...

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Detalles Bibliográficos
Autores principales: Lee, Ah J., Nam, Da E., Choi, Yu J., Noh, Seung W., Nam, Soo H., Lee, Hye J., Kim, Seung J., Song, Gyun J., Choi, Byung‐Ok, Chung, Ki W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507087/
https://www.ncbi.nlm.nih.gov/pubmed/32648354
http://dx.doi.org/10.1002/mgg3.1380

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