The Connective Tissue Disorder Associated with Recessive Variants in the
DeepGestalt technology
Ehlers–Danlos syndrome
SLC39A13
connective tissue
dysmorphology
short stature
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
14 04 2020
14 04 2020
Historique:
received:
02
04
2020
revised:
09
04
2020
accepted:
10
04
2020
entrez:
17
4
2020
pubmed:
17
4
2020
medline:
27
3
2021
Statut:
epublish
Résumé
Recessive loss-of-function variants in
Identifiants
pubmed: 32295219
pii: genes11040420
doi: 10.3390/genes11040420
pmc: PMC7231014
pii:
doi:
Substances chimiques
Cation Transport Proteins
0
SLC39A13 protein, human
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Références
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pubmed: 5432600
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pubmed: 30160832
PLoS One. 2008;3(11):e3642
pubmed: 18985159
Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26
pubmed: 28306229