Bi‐allelic loss‐of‐function novel variants in LTBP3 ‐related skeletal dysplasia: Report of first patient from India-Reference-Cited by-同舟云学术

Bi‐allelic loss‐of‐function novel variants in LTBP3 ‐related skeletal dysplasia: Report of first patient from India

Published:2020-05-20 Issue:8 Volume:182 Page:1944-1946
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Kaur Ravneet¹^ORCID,Siddiqui Ishrat²,Mathur Vijay²,Jana Manisha³,Kabra Madhulika¹,Gupta Neerja¹^ORCID

Affiliation:

1. Division of Genetics, Department of PediatricsAll India Institute of Medical Sciences New Delhi India

2. Department of Pedodontics and Preventive DentistryCentre for Dental Education and Research, All India Institute of Medical Sciences New Delhi India

3. Department of RadiodiagnosisAll India Institute of Medical Sciences New Delhi India

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61629

Reference10 articles.

1. New recessive truncating mutation inLTBP3in a family with oligodontia, short stature, and mitral valve prolapse

2. LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections

3. Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta

4. Genotype–phenotype correlation and expansion of orodental anomalies in LTBP3-related disorders

5. Mutations inLTBP3cause acromicric dysplasia and geleophysic dysplasia

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1. Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients;Heliyon;2024-01

2. First characterization of LTBP3 variants in two Moroccan families with hypoplastic amelogenesis imperfecta;Archives of Oral Biology;2022-10

3. Novel LTBP3 mutations associated with thoracic aortic aneurysms and dissections;Orphanet Journal of Rare Diseases;2021-12

4. LTBP3 Frameshift Variant in British Shorthair Cats with Complex Skeletal Dysplasia;Genes;2021-11-29

5. A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3;Genes;2021-09-12