Metatropic Dysplasia with a Novel Mutation in TRPV4

Gandham, SriLakshmi Bhavani and Girisha, KM (2016) Metatropic Dysplasia with a Novel Mutation in TRPV4. Indian Pediatrics, 53 (8). pp. 735-737. ISSN 0019-6061

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Abstract

Back ground: Metatropic dysplasia is a skeletal dysplasia characterized by rhizomelia,severe kyphoscoliosis and a coccygeal tail. Case characteristics: A 12 day-old male neonate had facial dysmorphism, short limbs and coccygeal tail and showed radiological features of metatropic dysplasia. Observation: A novel heterozygous variant was observed in TRPV4 gene. Message: We report a novel mutation in an Indian neonate with metatropic dysplasia.

Item Type: Article
Uncontrolled Keywords: Coccygeal tail; Genetics; Metatropic dysplasia; TRPV4
Subjects: Medicine > KMC Manipal > Paediatrics
Depositing User: KMC Library
Date Deposited: 07 Sep 2016 15:43
Last Modified: 07 Sep 2016 15:43
URI: http://eprints.manipal.edu/id/eprint/146925

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