A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in
LTBP3
amelogenesis imperfecta
brachyolmia
consanguinity
whole exome sequencing
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
12 09 2021
12 09 2021
Historique:
received:
09
08
2021
revised:
09
09
2021
accepted:
10
09
2021
entrez:
28
9
2021
pubmed:
29
9
2021
medline:
17
2
2022
Statut:
epublish
Résumé
In recent years, a rare form of autosomal recessive brachyolmia associated with amelogenesis imperfecta (AI) has been described as a novel nosologic entity. This disorder is characterized by skeletal dysplasia (e.g., platyspondyly, short trunk, scoliosis, broad ilia, elongated femoral necks with coxa valga) and severe enamel and dental anomalies. Pathogenic variants in the latent transforming growth factor-β binding protein 3 (
Identifiants
pubmed: 34573388
pii: genes12091406
doi: 10.3390/genes12091406
pmc: PMC8470690
pii:
doi:
Substances chimiques
LTBP3 protein, human
0
Latent TGF-beta Binding Proteins
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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