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Article

Cerebellar heterotopia in an 11-year-old child with KDM6B-related neurodevelopmental disorder: A case report and review of the literature.

American journal of medical genetics. Part A - 1 Jun 2024

Politano Davide, D'Abrusco Fulvio, Pasca Ludovica, Ferraro Francesca, Gana Simone, Garau Jessica, Zanaboni Martina Paola, Rognone Elisa, Pichiecchio Anna, Borgatti Renato, Valente Enza Maria, De Giorgis Valentina, Romaniello Romina

Abstract excerpt

Heterozygous pathogenic variants in KDM6B have recently been associated to a rare neurodevelopmental disorder referred to as "Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities" and characterized by non-pathognomonic facial and body dysmorphisms, a wide range of neurodevelopmental and behavioral disorders and nonspecific neuroradiological findings. KDM6B encodes a histone...

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PMID: 38326731
DOI: 10.1002/ajmg.a.63555

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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