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Fumarase Deficiency and Its Effect on Infertility: A Case Series
BACKGROUND: Fumarase deficiency is an autosomal recessive condition characterized by severe neurologic abnormalities due to homozygous mutations in the fumarate hydratase (FH) gene. Heterozygous carriers of FH mutations have increased risk of developing uterine fibroids that can be associated with h...
Autores principales: | Schwartz, Jessica Wesley, Peyser, Alexandra, Tarrash, Miriam, Goldman, Randi Heather |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Avicenna Research Institute
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10471946/ https://www.ncbi.nlm.nih.gov/pubmed/37663422 http://dx.doi.org/10.18502/jri.v24i3.13277 |
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