Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature-Reference-Cited by-同舟云学术

Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature

Published:2022-08-20 Issue:11 Volume:188 Page:3229-3235
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

İli Ezgi Gökpınar¹^ORCID,Gezdirici Alper¹,Di Pietro Erminia²,Yergeau Christine²,Braverman Nancy²³

Affiliation:

1. Genetic Diseases Center Başakşehir Çam and Sakura City Hospital İstanbul Turkey

2. Research Institute of the McGill University Health Center Montreal Quebec Canada

3. Department of Pediatrics and Human Genetics McGill University Montreal Quebec Canada

Funder

Canadian Institutes of Health Research

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62959

Reference18 articles.

1. MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata

2. A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform

3. Alkyl-dihydroxyacetone phosphate synthase and dihydroxyacetone phosphate acyltransferase form a protein complex in peroxisomes

4. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Empowering Cartilage Restructuring with Biodegradable Magnesium Doped-Silicon Based-Nanoplatforms: Sustained Delivery and Enhanced Differentiation Potential;International Journal of Nanomedicine;2024-01