A Novel PCNT Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II)

• Main Authors: Masoud Dehghan Tezerjani (Author), Mohammad Yahya Vahidi Mehrjardi (Author), Hossein Hozhabri (Author), Masoud Rahmanian (Author)
• 格式: 图书
• 出版: Frontiers Media S.A., 2020-06-01T00:00:00Z.
• 主题: article
• 在线阅读: Connect to this object online.

Background: Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is an autosomal recessive and skeletal disorder included wide spectrum of clinical abnormalities such as fetal growth restriction, disproportionate face, microcephaly, post-natal growth retardation, adult height under 10...