A missense mutation in <scp> <i>DDRGK1</i> </scp> gene associated to Shohat‐type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature-Reference-Cited by-同舟云学术

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A missense mutation in DDRGK1 gene associated to Shohat‐type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature

Published:2022-06-07 Issue:8 Volume:188 Page:2434-2437
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:

Franceschi Roberto¹^ORCID,Iascone Maria²,Maitz Silvia³,Marchetti Daniela²,Mariani Milena⁴,Selicorni Angelo⁴^ORCID,Soffiati Massimo¹,Maines Evelina¹

Affiliation:

1. Pediatric Department S. Chiara General Hospital Trento Italy

2. Medical Genetics Laboratory ASST Papa Giovanni XXIII Bergamo Italy

3. Genetic Unit Pediatric Clinic, Fondazione MBBM, S. Gerardo Hospital Monza Italy

4. Pediatric Units ASST Lariana, S.Fermo della Battaglia (CO) Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62857

Reference4 articles.

1. Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia

2. Spondyloepimetaphyseal dysplasia (SEMD) Shohat type

3. Nosology and classification of genetic skeletal disorders: 2019 revision

4. New form of spondyloepimetaphyseal dysplasia (SEMD) in Jewish family of Iraqi Origin

Cited by 2 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. The Post-Translational Role of UFMylation in Physiology and Disease;Cells;2023-10-29

2. Shohat type-spondyloepimetaphyseal dysplasia: Further phenotypic delineation;European Journal of Medical Genetics;2022-12

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