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Article

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B -Related Disorders: Case Series and Review of the Literature.

American journal of medical genetics. Part A - 1 Sept 2025

Maglione Vittorio, Pizzuti Antonio, Mastromoro Gioia, Cresta Eleonora, Favata Paola, Digilio Maria Cristina, Capolino Rossella, Dentici Maria Lisa, Sinibaldi Lorenzo, Novelli Antonio, Tartaglia Marco, Terrin Gianluca, Cardilli Viviana

Abstract excerpt

Genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype. In the present study, we describe seven patients, four with a clinical diagnosis of SBBYSS and three presenting with an intermediate...

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PMID: 40277451
DOI: 10.1002/ajmg.a.64100

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KAT6B

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B -Related Disorders: Case Series and Review of the Literature.PMID 40277451Read ↗

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.Semantic proximity Read ↗

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