Severe achondroplasia due to two de novo variants in the transmembrane domain of FGFR3 on the same allele: A case report-Reference-Cited by-同舟云学术

Severe achondroplasia due to two de novo variants in the transmembrane domain of FGFR3 on the same allele: A case report

Published:2020-01-23 Issue:3 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Nagata Tadashi¹^ORCID,Matsushita Masaki¹^ORCID,Mishima Kenichi¹^ORCID,Kamiya Yasunari¹,Kato Kohji²^ORCID,Toyama Miho²,Ogi Tomoo²^ORCID,Ishiguro Naoki¹,Kitoh Hiroshi¹³^ORCID

Affiliation:

1. Department of Orthopaedic Surgery Nagoya University Graduate School of Medicine Nagoya Japan

2. Department of Genetics Research Institute of Environmental Medicine (RIeM) Nagoya University Nagoya Japan

3. Department of Orthopaedic Surgery Aichi Children's Health and Medical Center Obu Japan

Funder

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1148

Reference17 articles.

1. Presumed Homozygous Achondroplasia

2. Common mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism

3. Compound heterozygosity for the achondroplasia-hypochondroplasia FGFR3 mutations: Prenatal diagnosis and postnatal outcome

4. Double heterozygosity in bone growth disorders: Four new observations and review

5. Achondroplasia

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. Review of published 467 achondroplasia patients: clinical and mutational spectrum;Orphanet Journal of Rare Diseases;2024-01-27