Biallelic Variants in CCN2 Underlie an Autosomal Recessive Kyphomelic Dysplasia
Swati Singh, Sumita Danda, Neetu Sharma, Hitesh Hasmukhlal Shah, Vrisha Madhuri, Mir Tariq Altaf, Nadia Zipporah Padala, Raghavender Medishetti, Alka V. Ekbote, Gandham SriLakshmi Bhavani, Aarti Sevilimedu, Katta M. Girisha
This study identifies biallelic CCN2 variants as the cause of autosomal recessive kyphomelic dysplasia through clinical, genetic, and zebrafish model analyses.
medRxiv · Apr 5, 2024 · PreprintGenetic & Genomic Medicine