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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 <jats:italic>LTBP3<\/jats:italic> gene, thereby expanding the phenotypic spectrum of DASS.<\/jats:p>","DOI":"10.1002\/ajmg.a.61629","type":"journal-article","created":{"date-parts":[[2020,5,20]],"date-time":"2020-05-20T10:45:31Z","timestamp":1589971531000},"page":"1944-1946","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Bi\u2010allelic loss\u2010of\u2010function novel variants in <scp><i>LTBP3<\/i><\/scp>\u2010related skeletal dysplasia: Report of first patient from India"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3137-7025","authenticated-orcid":false,"given":"Ravneet","family":"Kaur","sequence":"first","affiliation":[{"name":"Division of Genetics, Department of Pediatrics All India Institute of Medical Sciences  New Delhi 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