Article

CYB5R3 HOMOZYGOUS MUTATION AS A RARE CAUSE OF CYANOSIS IN THE NEWBORN

2024-01-31

Abstract excerpt

We present here a very illustrative case of a rare pathology of recessive congenital methemoglobinemia. The patient, a newborn female, has the variant NM_000398.7:c.535G>A, p.(Ala179Thr) of the CYB5R3 gene in homozygosis, a variant classified as pathogenic. The reported population frequency of the allele is 0.0128%, reason why it is remarkable to find both parents are heterozygous carriers without consanguinity. A...

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Literature Corpus work: d9c84801-1b38-5c6f-a36e-38f972039657
DOI: 10.22541/au.170666472.22043625/v1

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