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Article

Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation.

American journal of medical genetics. Part A - 1 Dec 2021

Jobic Florence, Lacot-Leriche Emilie, Piton Amélie, Le Moing Anne-Gaëlle, Mathieu-Dramard Michèle, Costantini Sara, Morin Gilles, Jedraszak Guillaume

Abstract excerpt

Kleefstra syndrome (KS) is a rare autosomic dominant genetic disorder caused by euchromatic histone methyltransferase 1 (EHMT1) alterations. Patients mainly present with moderate to severe intellectual disability, a severe delay in/or absence of speech, autism spectrum disorder, childhood hypotonia, neuropsychiatric anomalies, and distinctive dysmorphic features. Here, we report the cases of a male and a female,...

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Source

Identifiers

PMID: 34357686
DOI: 10.1002/ajmg.a.62448

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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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