Article

Homozygous Synonymous Variant in CCDC134 with Osteogenesis Imperfecta Type XXII in a Three-Generation Chinese Family

2026-03-04

Abstract excerpt

<title>Abstract</title> <p> <bold>Background:</bold> Osteogenesis imperfecta (OI) type XXII is an ultra-rare autosomal recessive disorder caused by biallelic pathogenic variants in <italic>CCDC134</italic> . To date, only six cases have been reported worldwide: five harboring the c.2T>C (p.Met1Thr) variant and one with the synonymous c.492G>C (p.Leu164Leu) change. We report two siblings carrying the c.492G>C...

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Literature Corpus work: 416bf6a7-dec2-5170-b70a-3f9a6d8cd1c4
DOI: 10.21203/rs.3.rs-8437989/v1

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