Masoud Dehghan Tezerjani Mohammad Yahya Vahidi Mehrjardi Hossein Hozhabri Masoud Rahmanian
10.3389/fped.2020.00340
Front Pediatr
2020 Jun 25;8:340.
mopd ii pcnt gene birth defects high-throughput nucleotide sequencing primordial dwarfism
CC BY
https://pubmed.ncbi.nlm.nih.gov/32671003/
Case Reports
PMC7330014
32671003
A Novel PCNT Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II)
2020