Hereditary neuropathy with liability to pressure palsies (HNPP): Intrafamilial phenotypic variability and early childhood refusal to walk as the presenting symptom
Abstract 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,...
Saved in:
Main Authors: | Shani Karklinsky (Author), Shir Kugler (Author), Omer Bar-Yosef (Author), Andreea Nissenkorn (Author), Anat Grossman-Jonish (Author), Irit Tirosh (Author), Asaf Vivante (Author), Ben Pode-Shakked (Author) |
---|---|
Format: | Book |
Published: |
BMC,
2022-06-01T00:00:00Z.
|
Subjects: | |
Online Access: | Connect to this object online. |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene
by: Carlo Fusco, et al.
Published: (2017) -
Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature
by: Ben Pode-Shakked, et al.
Published: (2019) -
Do human embryos have the ability of self-correction?
by: Raoul Orvieto, et al.
Published: (2020) -
Colchicine treatment can be discontinued in a selected group of pediatric FMF patients
by: Keren Cohen, et al.
Published: (2023) -
Hereditary Neuropathy with Liability to Pressure Palsies
by: Hyoung Won Choi, et al.
Published: (2015)