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

Kaur Ravneet | Zendy; Siddiqui Ishrat | Zendy; Mathur Vijay | Zendy; Jana Manisha | Zendy; Kabra Madhulika | Zendy; Gupta Neerja | Zendy

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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

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.

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