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Title Clinical And Molecular Characterization Of Primordial Dwarfism (Pd) In Indian Patients

File number 33/1/2019-TF/Rare/BMS

Funding agency ICMR

Start date Dec. 1, 2020

End Date Nov. 30, 2023

Duration Three Year

Disease category Primordial Dwarfism

Type of study None

Type of data None

Aims of objective 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

Keyword Primordial Dwarfism, Microcephaly, Relative Macrocephaly, Mutation, Epimutation, Uniparental Disomy

Description None

Total Sanctioned budget 40,30,938/-

Principle Investigator Dr. Preeti Khetarpal/None/Deparment of Human Genetics and Molecular Medicine

CoPrincipal Investigator Dr. Sabyasachi Senapati/None/Central University of Punjab