Publications by authors named "Maria Del Carmen Fons-Estupina"
Article Synopsis
- * An infant with a new homozygous genetic variant showed severe health issues such as congenital cataracts and died shortly after birth, indicating serious mitochondrial dysfunction.
- * Genetic sequencing and in vitro tests revealed decreased oxygen consumption and impaired activity in key mitochondrial complexes, confirming the variant's role in disrupting mitochondrial function.
IQSEC2 mutations are associated with IQSEC2-related intellectual disability (ID). Phenotypic spectrum has been better defined in the last few years by the increasing number of reported cases although the genotype-phenotype relationship for IQSEC2 remains overall complex. As for IQSEC2-related ID a wide phenotypic diversity has been described in Rett syndrome (RTT).
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