Clinical And Molecular Characterization Of Primordial Dwarfism (Pd) In Indian Patients
33/1/2019-TF/Rare/BMS
ICMR
Dec. 1, 2020
Nov. 30, 2023
Three and a half years
Primordial Dwarfism
Case control study
None
Documentation of clinical features of Primordial Dwarfism in Indian Patients; Investigating the Genetic/epigenetic cause and understanding the implication of pathogenic mutation in the newly identifie
Primordial Dwarfism, Microcephaly, Relative Macrocephaly, Mutation, Epimutation, Uniparental Disomy
The project is aimed to document clinical features and elucidate the underlying genetic mutation/epimutation of Primordial dwarfism patients from India which has not been reported earlier.
40,30,938/-
Dr. Preeti Khetarpal/None/Deparment of Human Genetics and Molecular Medicine