Metatropic dysplasia with a novel mutation in TRPV4

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

doi:10.1007/s13312-016-0921-1

Metatropic dysplasia with a novel mutation in TRPV4

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

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

5 Citations (Scopus)

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 language	English
Pages (from-to)	735-737
Number of pages	3
Journal	Indian Pediatrics
Volume	53
Issue number	8
DOIs	https://doi.org/10.1007/s13312-016-0921-1
Publication status	Published - 01-08-2016

All Science Journal Classification (ASJC) codes

Pediatrics, Perinatology, and Child Health

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10.1007/s13312-016-0921-1

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title = "Metatropic dysplasia with a novel mutation in TRPV4",

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.",

author = "Narayanan, \{Dhanya Lakshmi\} and Bhavani, \{Gandham Sri Lakshmi\} and Girisha, \{Katta Mohan\} and Phadke, \{Shubha R.\}",

note = "Publisher Copyright: {\textcopyright} 2016, Indian Academy of Pediatrics.",

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doi = "10.1007/s13312-016-0921-1",

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T1 - Metatropic dysplasia with a novel mutation in TRPV4

AU - Narayanan, Dhanya Lakshmi

AU - Bhavani, Gandham Sri Lakshmi

AU - Girisha, Katta Mohan

AU - Phadke, Shubha R.

PY - 2016/8/1

Y1 - 2016/8/1

N2 - 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.

AB - 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.

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UR - https://www.scopus.com/pages/publications/84986563033#tab=citedBy

U2 - 10.1007/s13312-016-0921-1

DO - 10.1007/s13312-016-0921-1

M3 - Article

C2 - 27567651

AN - SCOPUS:84986563033

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SP - 735

EP - 737

JO - Indian Pediatrics

JF - Indian Pediatrics

IS - 8

ER -

Metatropic dysplasia with a novel mutation in TRPV4

Abstract

All Science Journal Classification (ASJC) codes

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