Novel PEX7 gene variant-associated rhizomelic chondrodysplasia punctata type 1: a clinico-radio-biochemical diagnosis

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Roshwanth A1, Balachandar Vellingiri2, Sameer Peer3

  • 1Pediatrics, AIIMS Bathinda, Bathinda, PB, India.

BMJ Case Reports
|May 22, 2026
PubMed
Abstract

No abstract available in PubMed .

Keywords:
NeuroimagingSpinal cord

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