Journal
Case reports in medicine
ISSN: 1687-9627
Titre abrégé: Case Rep Med
Pays: United States
ID NLM: 101512910
Informations de publication
Date de publication:
2020
2020
Historique:
received:
05
12
2019
revised:
23
03
2020
accepted:
27
03
2020
entrez:
25
4
2020
pubmed:
25
4
2020
medline:
25
4
2020
Statut:
epublish
Résumé
Lethal congenital contracture syndrome type 7 (LCCS7) and congenital hypomyelinating neuropathy type 3 (CHN3) are rare autosomal recessive diseases, characterized by severe neonatal hypotonia, polyhydramnios, arthrogryposis, facial diplegia, and severe motor paralysis, leading to death in early infancy. They are related to mutations in the
Identifiants
pubmed: 32328110
doi: 10.1155/2020/8795607
pmc: PMC7174947
doi:
Types de publication
Case Reports
Langues
eng
Pagination
8795607Informations de copyright
Copyright © 2020 Sandra Sabbagh et al.
Déclaration de conflit d'intérêts
The authors declare that there are no conflicts of interest regarding the publication of this paper.
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