Metatropic dysplasia with a novel mutation in TRPV4

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

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)735-737
Number of pages3
JournalIndian Pediatrics
Volume53
Issue number8
DOIs
Publication statusPublished - 01-08-2016

Fingerprint

Mutation
compound A 12
Extremities
Observation
Genes
Metatropic dwarfism

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this

Narayanan, Dhanya Lakshmi ; Bhavani, Gandham Sri Lakshmi ; Girisha, Katta Mohan ; Phadke, Shubha R. / Metatropic dysplasia with a novel mutation in TRPV4. In: Indian Pediatrics. 2016 ; Vol. 53, No. 8. pp. 735-737.
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Narayanan, DL, Bhavani, GSL, Girisha, KM & Phadke, SR 2016, 'Metatropic dysplasia with a novel mutation in TRPV4', Indian Pediatrics, vol. 53, no. 8, pp. 735-737. https://doi.org/10.1007/s13312-016-0921-1

Metatropic dysplasia with a novel mutation in TRPV4. / Narayanan, Dhanya Lakshmi; Bhavani, Gandham Sri Lakshmi; Girisha, Katta Mohan; Phadke, Shubha R.

In: Indian Pediatrics, Vol. 53, No. 8, 01.08.2016, p. 735-737.

Research output: Contribution to journalArticle

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AU - Girisha, Katta Mohan

AU - Phadke, Shubha R.

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