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Article

Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.

European journal of human genetics : EJHG - 1 May 2005

Wakui Keiko, Gregato Giuliana, Ballif Blake C, Glotzbach Caron D, Bailey Kristen A, Kuo Pao-Lin, Sue Whui-Chen, Sheffield Leslie J, Irons Mira, Gomez Enrique G, Hecht Jacqueline T, Potocki Lorraine, Shaffer Lisa G

Abstract excerpt

Potocki-Shaffer syndrome (PSS) is a contiguous gene deletion syndrome that results from haploinsufficiency of at least two genes within the short arm of chromosome 11[del(11)(p11.2p12)]. The clinical features of PSS can include developmental delay, mental retardation, multiple exostoses, parietal foramina, enlarged anterior fontanel, minor craniofacial anomalies, ophthalmologic anomalies, and genital...

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Topics

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Share to Abnormalities, Multiple
Share to Chromosomes, Human, Pair 11

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Craniofacial Dysostosis

Share to Exostoses, Multiple Hereditary

Share to In Situ Hybridization, Fluorescence

Share to Intellectual Disability

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Source

Identifiers

PMID: 15852040
DOI: 10.1038/sj.ejhg.5201366

Genes

ALX4
EXT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.PMID 15852040Read ↗

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