A Novel PCNT Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II)
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...
Main Authors: | Masoud Dehghan Tezerjani, Mohammad Yahya Vahidi Mehrjardi, Hossein Hozhabri, Masoud Rahmanian |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2020-06-01
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Series: | Frontiers in Pediatrics |
Subjects: | |
Online Access: | https://www.frontiersin.org/article/10.3389/fped.2020.00340/full |
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