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Article

De novo mutations in MLL cause Wiedemann-Steiner syndrome.

American journal of human genetics - 10 Aug 2012

Jones Wendy D, Dafou Dimitra, McEntagart Meriel, Woollard Wesley J, Elmslie Frances V, Holder-Espinasse Muriel, Irving Melita, Saggar Anand K, Smithson Sarah, Trembath Richard C, Deshpande Charu, Simpson Michael A

Abstract excerpt

Excessive growth of terminal hair around the elbows (hypertrichosis cubiti) has been reported both in isolation and in association with a variable spectrum of associated phenotypic features. We identified a cohort of six individuals with hypertrichosis cubiti associated with short stature, intell...

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Source

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Identifiers

PMID: 22795537
DOI: 10.1016/j.ajhg.2012.06.008
PMCID: PMC3415539

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22795537-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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