Congenital Defects in a Patient Carrying a Novel Homozygous
ACLP
AEBP1
Ehlers–Danlos Syndrome
Poland anomaly
TGF-β pathway
amniotic band sequence
clEDS2
cleft palate
multiple congenital anomalies
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
14 12 2022
14 12 2022
Historique:
received:
30
11
2022
revised:
09
12
2022
accepted:
12
12
2022
entrez:
23
12
2022
pubmed:
24
12
2022
medline:
27
12
2022
Statut:
epublish
Résumé
In 2018, a new clinical subtype, caused by biallelic variants in the
Identifiants
pubmed: 36553625
pii: genes13122358
doi: 10.3390/genes13122358
pmc: PMC9777638
pii:
doi:
Substances chimiques
AEBP1 protein, human
0
Carboxypeptidases
EC 3.4.-
Repressor Proteins
0
Types de publication
Case Reports
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Références
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