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Article

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

American journal of medical genetics. Part A - 1 Aug 2020

Kaur Ravneet, Siddiqui Ishrat, Mathur Vijay, Jana Manisha, Kabra Madhulika, Gupta Neerja

Abstract excerpt

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,...

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PMID: 32432408
DOI: 10.1002/ajmg.a.61629

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Bi-allelic loss-of-function novel variants in LTBP3-related skeletal dysplasia: Report of first patient from India.PMID 32432408Read ↗

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Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfectaSemantic proximity Read ↗

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