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Hereditary neuropathy with liability to pressure palsies (HNPP): Intrafamilial phenotypic variability and early childhood refusal to walk as the presenting symptom

BACKGROUND: Limping and/or refusal to walk is a common complaint in the setting of the pediatric department, with a widely diverse differential diagnosis. An unusual etiology, is that of a hereditary neuropathy. Hereditary neuropathy with liability to pressure palsies (HNPP) is a recurrent, episodic...

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Detalles Bibliográficos
Autores principales: Karklinsky, Shani, Kugler, Shir, Bar-Yosef, Omer, Nissenkorn, Andreea, Grossman-Jonish, Anat, Tirosh, Irit, Vivante, Asaf, Pode-Shakked, Ben
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9164845/
https://www.ncbi.nlm.nih.gov/pubmed/35658923
http://dx.doi.org/10.1186/s13052-022-01280-z