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Article

Metatropic Dysplasia with a Novel Mutation in TRPV4.

Indian pediatrics - 8 Aug 2016

Narayanan Dhanya Lakshmi, Bhavani Gandham SriLakshmi, Girisha Katta Mohan, Phadke Shubha R

Abstract excerpt

BACKGROUND: 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...

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Source

Identifiers

PMID: 27567651
DOI: 10.1007/s13312-016-0921-1

Genes

TRPV4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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