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Article

Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.

European journal of medical genetics - 1 Oct 2017

Slavotinek Anne, Pua Heather, Hodoglugil Ugur, Abadie Jude, Shieh Joseph, Van Ziffle Jessica, Kvale Mark, Lee Hane, Kwok Pui-Yan, Risch Neil, Sabbadini Marta

Abstract excerpt

We present a 7-year old male with severe delays, hypotonia and dysmorphic features who had striking, deep palmar and plantar creases and pillowing of the soft tissues of the palms and soles. His facial features included a high anterior hairline, small eyes with narrowed palpebral fissures, a bulbous nasal tip with a short columella, and a large mouth with a thin upper vermilion, and small chin. He had a submucous...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28687524
DOI: 10.1016/j.ejmg.2017.07.003

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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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