A novel variant in <scp> <i>GNPNAT1</i> </scp> gene causing a spondylo‐epi‐metaphyseal dysplasia resembling <scp> <i>PGM3</i> </scp> —Desbuquois like dysplasia-Reference-Cited by-同舟云学术

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A novel variant in GNPNAT1 gene causing a spondylo‐epi‐metaphyseal dysplasia resembling PGM3 —Desbuquois like dysplasia

Published:2022-08-11 Issue:10 Volume:188 Page:2861-2868
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:

Elhossini Rasha Moheb¹^ORCID,Ahmed Hoda Abdalla²^ORCID,Otaify Ghada¹^ORCID,Ghorab Raghda M.³,Amr Khalda²^ORCID,Aglan Mona¹

Affiliation:

1. Clinical Genetics Department Human Genetics and Genome Research Institute, National Research Centre Cairo Egypt

2. Medical Molecular Genetics Department Human Genetics and Genome Research Institute, National Research Centre Cairo Egypt

3. Immunogenetics Department Human Genetics and Genome Research Institute, National Research Centre Cairo Egypt

Funder

Science and Technology Development Fund

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62933

Reference15 articles.

1. Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1

2. Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination

3. Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD

4. Glucosamine-6 Phosphate N-Acetyltransferase (GNPNAT1/GNA1)

Cited by 3 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. Aggrecan-related bone disorders; a novel heterozygous ACAN variant associated with spondyloepimetaphyseal dysplasia expanding the phenotypic spectrum and review of literature;Journal of Genetic Engineering and Biotechnology;2024-03

2. GNPNAT1 promotes the stemness of breast cancer and serves as a potential prognostic biomarker;Oncology Reports;2023-06-28

3. The Hexosamine Biosynthesis Pathway: Regulation and Function;Genes;2023-04-18

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