Article

Sensorineural Hearing Loss and Hypothyroidism in A Patient with Cernunnos Deficiency; A Case Report

2022-03-10

Abstract excerpt

<title>Abstract</title> <p>Cernunnos deficiency is a rare radiosensitive form of severe combined immunodeficiency (SCID). Herein, we report a patient with recurrent infections, birdlike face, microcephaly, Failure to thrive (FTT), and hypogammaglobinemia accompanied by considerable and rare features of sensorineural hearing loss and hypothyroidism with a mutation in splicing site of the third intron of non-homolo...

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Literature Corpus work: e0bbe98c-7322-5867-bb08-c33dcde2e569
DOI: 10.21203/rs.3.rs-1398608/v1

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