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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: 3 Methylglutaconic Aciduria Type V[original query]
[Clinical and genetic analysis of an infant with 3-methylglutaconic aciduria type VII].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 3 37 (4): 423-426.
Zhang Kaihui, Huang Yan, Lyu Yuqiang, Gao Min, Ma Jian, Gai Zhongtao, Liu
Novel heterozygous OPA3 variant in a family with congenital cataracts, sensorineural hearing loss and neuropathy, without optic atrophy and comparison of pathogenic and population variants.
American journal of medical genetics. Part A 2024 8 e63846.
Monica Penon-Portmann, Kendyl Naugle, Frank Brodie, Julie Schallhorn, Paul Griggs, Joyce
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