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Novel MBTPS1 Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo-Fu Type.

Clinical genetics - 1 Apr 2026

Lucas-Castro Elsa, Diaz-González Francisca, Modamio-Høybjor Silvia, Parrón-Pajares Manuel, Pajares Sonia, Gort Laura, Nevado Julián, Lapunzina Pablo, Leiva-Gea Antonio, Heath Karen E

Abstract excerpt

Spondyloepiphyseal dysplasia, Kondo-Fu (SEDKF) type is a rare skeletal dysplasia caused by biallelic variants in MBTPS1. To date, only seven SEDKF cases have been reported in the literature. Here, we report the eighth, a 20-year-old male presenting with severe disproportionate short stature, spondyloepiphyseal dysplasia, and the previously unreported feature of cutis laxa, which led to the clinical suspicion of...

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PMID: 41024587
DOI: 10.1111/cge.70084

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MBTPS1

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