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Article

Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate.

Human genetics - 1 May 2013

Lindgren Amelia M, Hoyos Tatiana, Talkowski Michael E, Hanscom Carrie, Blumenthal Ian, Chiang Colby, Ernst Carl, Pereira Shahrin, Ordulu Zehra, Clericuzio Carol, Drautz Joanne M, Rosenfeld Jill A, Shaffer Lisa G, Velsher Lea, Pynn Tania, Vermeesch Joris, Harris David J, Gusella James F, Liao Eric C, Morton Cynthia C

Abstract excerpt

We describe a female subject (DGAP100) with a 46,X,t(X;5)(p11.3;q35.3)inv(5)(q35.3q35.1)dn, severe psychomotor retardation with hypotonia, global postnatal growth restriction, microcephaly, globally reduced cerebral volume, seizures, facial dysmorphia and cleft palate. Fluorescence in situ hybrid...

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Identifiers

PMID: 23354975
DOI: 10.1007/s00439-013-1263-x
PMCID: PMC3627823

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23354975-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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