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Bi‐allelic loss‐of‐function novel variants in LTBP3 ‐related skeletal dysplasia: Report of first patient from India
Author(s) -
Kaur Ravneet,
Siddiqui Ishrat,
Mathur Vijay,
Jana Manisha,
Kabra Madhulika,
Gupta Neerja
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61629
Subject(s) - short stature , phenotype , allele , genetics , gene , amelogenesis imperfecta , biology , medicine , dentistry , endocrinology , enamel paint
Abstract 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.