Journal of Pediatric Perspectives

Current Issue

By Issue

By Author

By Subject

Author Index

Keyword Index

About Journal

Aims and Scope

Editorial Board

Publication Ethics

Indexing and Abstracting

Related Links

FAQ

Peer Review Process

News

Volume 13 (2025)
Volume 12 (2024)
Volume 11 (2023)
Volume 10 (2022)
Volume 9 (2021)
Volume 8 (2020)
Volume 7 (2019)
Volume 6 (2018)
Volume 5 (2017)
Volume 4 (2016)
Volume 3 (2015)
Volume 2 (2014)
Volume 1 (2013)

Keywords = Peroxisome biogenesis disorder

Number of Articles: 1
A Missense Mutation of G257A at Exon 3 in PEX7 CDS Was Responsible for the Incidence of Rhizomelic Chondrodysplasia Punctata Type 1
A Missense Mutation of G257A at Exon 3 in PEX7 CDS Was Responsible for the Incidence of Rhizomelic Chondrodysplasia Punctata Type 1

Marziyeh Alamatsaz; Kamran Ghaedi; Motahare-Sadat Hashemi; Yousef Shafeghati; Mohammad Faghihi; Mohammad Hossein Nasr-Esfahani

Volume 6, Issue 2 , February 2018, , Pages 7193-7200

https://doi.org/10.22038/ijp.2017.26197.2240

Abstract
  BackgroundRhizomelic chondrodysplasia punctata (RCDP) type 1 is among of the rare autosomal recessive peroxisome biogenesis disorders caused by mutations in the PEX7 gene. RCDP patients ...  Read More