COXPD9 in an individual from Puerto Rico and literature review-Reference-Cited by-同舟云学术

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COXPD9 in an individual from Puerto Rico and literature review

Published:2021-05-19 Issue:8 Volume:185 Page:2519-2525
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Alsharhan Hind¹²³^ORCID,Muraresku Colleen²,Ganetzky Rebecca D.²⁴^ORCID

Affiliation:

1. Department of Pathology and Laboratory Medicine Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

2. Division of Human Genetics, Section of Biochemical Genetics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

3. Department of Pediatrics, Faculty of Medicine Kuwait University Kuwait City Kuwait

4. Department of Pediatrics, Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62344

Reference30 articles.

1. MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities

2. Exome sequencing as a tool for Mendelian disease gene discovery

3. MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy

4. COXPD9 an Evolving Multisystem Disease; Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial Nephritis

5. Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy

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. Genetic Landscape of Hearing Loss in the Caribbean: A Narrative Review;Balkan Medical Journal;2024-05-03

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