A novel
DIJOS, Diets-Jongmans syndrome
Facial dysmorphism
Impaired intellectual development
KDM3B gene
Short stature
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Dec 2022
Dec 2022
Historique:
received:
25
08
2022
revised:
11
10
2022
accepted:
12
10
2022
entrez:
24
10
2022
pubmed:
25
10
2022
medline:
25
10
2022
Statut:
epublish
Résumé
Diets-Jongmans syndrome, DIJOS, is a very recently described autosomal dominant condition, which is caused by heterozygous pathogenic variants in
Identifiants
pubmed: 36274669
doi: 10.1016/j.ymgmr.2022.100927
pii: S2214-4269(22)00087-8
pmc: PMC9579042
doi:
Types de publication
Case Reports
Langues
eng
Pagination
100927Informations de copyright
© 2022 Published by Elsevier Inc.
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
Références
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pubmed: 30929739
Hum Mutat. 2019 Sep;40(9):1346-1363
pubmed: 31209962
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pubmed: 33875846