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Article

A novel CANT1 mutation in three Indian patients with Desbuquois dysplasia Kim type.

European journal of medical genetics - 1 Feb 2015

Singh Ankur, Kim Ok-Hwa, Iida Aritoshi, Park Woong-Yang, Ikegawa Shiro, Kapoor Seema

Abstract excerpt

Desbuquois dysplasia (DBQD) is a rare skeletal dysplasia characterized by severe short stature, laxity, dislocation of multiple joints and developmental delay. DBQD is clinically heterogeneous. Distinct radiographic hand abnormalities such as the presence of extra-ossification distal to the second metacarpal or normal hand has led to its classification into types 1 and 2. Furthermore, the third type of DBQD, Kim...

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Source

Identifiers

PMID: 25486376
DOI: 10.1016/j.ejmg.2014.11.006

Genes

CANT1

Variants

Provenance

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Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports.Semantic proximity Read ↗

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