Live Birth of a Healthy Child in a Couple with Identical mtDNA Carrying a Pathogenic c.471_477delTTTAAAAinsG Variant in the MOCS2 Gene

Molybdenum cofactor deficiency type B (MOCODB; #252160) is an autosomal recessive metabolic disorder that has only been described in 37 affected patients. In this report, we describe the presence of an in-frame homozygous variant (c.471_477delTTTAAAAinsG) in the MOCS2 gene in an affected child, diag...

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Detalles Bibliográficos
Autores principales: Tofilo, Maria, Voronova, Natalia, Nigmatullina, Leila, Kuznetsova, Elena, Timonina, Valeria, Efimenko, Bogdan, Turgunkhujaev, Oybek, Avdeichik, Svetlana, Ansar, Muhammad, Popadin, Konstantin, Kirillova, Anastasia, Mazunin, Ilya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048300/
https://www.ncbi.nlm.nih.gov/pubmed/36980992
http://dx.doi.org/10.3390/genes14030720

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