TY - JOUR
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.
N1 - Publisher Copyright:
© 2016, Indian Academy of Pediatrics.
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.
UR - https://www.scopus.com/pages/publications/84986563033
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
SN - 0019-6061
VL - 53
SP - 735
EP - 737
JO - Indian Pediatrics
JF - Indian Pediatrics
IS - 8
ER -