Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 2 (of 2 Records) |
Query Trace: Ataxia-oculomotor Apraxia Type 4[original query] |
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A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2. Journal of clinical neurology (Seoul, Korea) 2018 9 14 (4): 498-504. Tariq Huma, Imran Rashid, Naz Sad |
Compound Heterozygous Mutations in PNKP Gene in an Iranian Child with Microcephaly, Seizures, and Developmental Delay. Fetal and pediatric pathology 2019 11 40 (2): 174-180. Bitarafan Fatemeh, Khodaeian Mehrnoosh, Almadani Navid, Kalhor Alireza, Sardehaei Elham Amjadi, Garshasbi Maso |
- Page last reviewed:Feb 1, 2024
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