Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA.
Journal
Neuropediatrics
ISSN: 1439-1899
Titre abrégé: Neuropediatrics
Pays: Germany
ID NLM: 8101187
Informations de publication
Date de publication:
08 2020
08 2020
Historique:
pubmed:
7
3
2020
medline:
5
6
2021
entrez:
7
3
2020
Statut:
ppublish
Résumé
Cutis laxa is a heterogeneous group of diseases, characterized by abundant and wrinkled skin and a variable degree of intellectual disability. Cutis laxa, autosomal recessive, type IIIA and autosomal dominant 3 syndromes are caused by autosomal recessive or de novo pathogenic variants in
Identifiants
pubmed: 32143220
doi: 10.1055/s-0040-1701671
doi:
Substances chimiques
ALDH18A1 protein, human
EC 1.2.1.3
Aldehyde Dehydrogenase
EC 1.2.1.3
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
245-250Informations de copyright
Georg Thieme Verlag KG Stuttgart · New York.
Déclaration de conflit d'intérêts
None declared.