Clinical and Molecular Delineation of KAT6B -Related Disorders: Novel Variants and Refined Genotype-Phenotype Correlations.

Hum MutatSep 24, 2026 (epub)
Case ReportMedical GeneticsOpen access

Vito Luigi Colona, Maria Gnazzo, Annalidia Donato et al.

✦ AI-curated · Sources linked

Condensed from the publisher's abstract. An xxcode editorial summary of this publication has not been generated yet.

From the abstract

KAT6B-related disorders (KRDs) comprise a spectrum of developmental disorders ranging from Genitopatellar syndrome (GPS) to Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS), with increasing recognition of intermediate phenotypes.

Source

Published in Hum Mutat. The text above is extracted from the publisher's own abstract and has not been edited by xxcode. For clinical decisions, review the original publication.

ShareTelegramLinkedIn

AI-generated summaries may contain errors or omissions. Verify clinically important information with the original publication.

More in Medical Genetics

Want this personalized?

Stop searching the literature. Choose what you follow and xxcode will build your personalized medical digest.

  • Your specialties
  • Your filters and thresholds
  • Clinical Research + Case Reports, tuned separately
  • Automatic weekly delivery
  • Audio and text

Prefer listening? Personalized audio digests are available with Pro.

Stay updated for free

Get the 3 most interesting publications in one specialty each week.

Weekly email. Unsubscribe anytime.