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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...

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Detalles Bibliográficos
Autores principales: Schwartz, Jessica Wesley, Peyser, Alexandra, Tarrash, Miriam, Goldman, Randi Heather
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Avicenna Research Institute 2023
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