Bi-allelic loss-of-function novel variants in LTBP3-related skeletal dysplasia: Report of first patient from India.
LTBP3
brachyolmia
dental anomalies
short stature
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
08 2020
08 2020
Historique:
received:
14
03
2020
revised:
21
04
2020
accepted:
25
04
2020
pubmed:
21
5
2020
medline:
4
6
2021
entrez:
21
5
2020
Statut:
ppublish
Résumé
Dental anomalies and short stature (DASS) has been recently identified as a distinct entity, associated with bi-allelic hypomorphic variants in LTBP3 gene. Only 20 individuals from nine families have been previously reported, with a consistent phenotype of short stature, brachyolmia, and amelogenesis imperfecta. We report the first case from India, with novel radiographic and molecular findings in LTBP3 gene, thereby expanding the phenotypic spectrum of DASS.
Identifiants
pubmed: 32432408
doi: 10.1002/ajmg.a.61629
doi:
Substances chimiques
LTBP3 protein, human
0
Latent TGF-beta Binding Proteins
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
1944-1946Informations de copyright
© 2020 Wiley Periodicals, Inc.
Références
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