Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.

doi:10.1002/ajmg.a.61859

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Article

Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.

American journal of medical genetics. Part A - 1 Dec 2020

Giangiobbe Sara, Caraffi Stefano Giuseppe, Ivanovski Ivan, Maini Ilenia, Pollazzon Marzia, Rosato Simonetta, Trimarchi Gabriele, Lauriello Anna, Marinelli Maria, Nicoli Davide, Baldo Chiara, Laurie Steven, Flores-Daboub Josue, Provenzano Aldesia, Andreucci Elena, Peluso Francesca, Rizzo Renata, Stewart Helen, Lachlan Katherine, Bayat Allan, Napoli Manuela, Carboni Giorgia, Baker Janice, Mendel Alyssa, Piatelli Gianluca, Pantaleoni Chiara, Mattina Teresa, Prontera Paolo, Mendelsohn Nancy J, Giglio Sabrina, Zuffardi Orsetta, Garavelli Livia

Abstract excerpt

Wiedemann-Steiner syndrome (WDSTS) is a rare autosomal dominant condition caused by heterozygous loss of function variants in the KMT2A (MLL) gene, encoding a lysine N-methyltransferase that mediates a histone methylation pattern specific for epigenetic transcriptional activation. WDSTS is characterized by a distinctive facial phenotype, hypertrichosis, short stature, developmental delay, intellectual disability,...

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PMID: 33043602
DOI: 10.1002/ajmg.a.61859

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