A novel <scp> <i>MTX2</i> </scp> gene splice site variant resulting in exon skipping, causing the recently described mandibuloacral dysplasia progeroid syndrome-Reference-Cited by-同舟云学术

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A novel MTX2 gene splice site variant resulting in exon skipping, causing the recently described mandibuloacral dysplasia progeroid syndrome

Published:2022-10-21 Issue:1 Volume:191 Page:173-182
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:

Yeter Doğan Burcu¹,Günay Neslihan²,Ada Yasin³,Doğan Muhammet Ensar⁴^ORCID

Affiliation:

1. Division of Pediatric Genetics, Department of Pediatrics Kayseri City Education and Research Hospital Kayseri Turkey

2. Division of Pediatric Nephrology, Department of Pediatrics Kayseri City Education and Research Hospital Kayseri Turkey

3. Department of Medical Genetics Kayseri City Education and Research Hospital Kayseri Turkey

4. Department of Medical Genetics, Faculty of Medicine Erciyes University Kayseri Turkey

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63010

Reference37 articles.

1. Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia

2. Mandibuloacral dysplasia with type B lipodystrophy in a patient from Chile

3. Splicing mutations in human genetic disorders: examples, detection, and confirmation

4. Metaxin Is a Component of a Preprotein Import Complex in the Outer Membrane of the Mammalian Mitochondrion

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. Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review;Frontiers in Endocrinology;2024-03-13

2. Novel Heredity Basis of the Four-Horn Phenotype in Sheep Using Genome-Wide Sequence Data;Animals;2023-10-10

3. Progeroid syndromes;Die Dermatologie;2023-08-31

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