PMID: 11920836Mar 29, 2002Paper

Glypican 1 gene: good candidate for brachydactyly type E

American Journal of Medical Genetics
Maria SyrrouJ P Fryns

Abstract

In this report, we describe two siblings, a brother and a sister, with mental retardation and limb abnormalities (brachymetacarpy and brachymetatarsy in the brother and clinodactyly in his sister). Fluorescent in situ hybridization analysis (FISH) using subtelomeric probes proved that the patients carried an unbalanced subtelomeric rearrangement with 2qter deletion involving the Glypican 1 gene. Given the expression pattern in the developing limb bud, Glypican 1 gene represents a good candidate for brachydactyly E.

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Citations

Oct 7, 2005·Clinical Genetics·U MoogJ J M Engelen
Jun 10, 2006·European Journal of Medical Genetics·M ChaabouniS P Romana
Oct 21, 2014·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Kaeko OguraToshiyuki Yamamoto
Oct 3, 2007·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Rena E Falk, Kari A Casas
Aug 9, 2005·American Journal of Medical Genetics. Part a·Margaret P AdamEugene H Hoyme
Sep 12, 2013·American Journal of Human Biology : the Official Journal of the Human Biology Council·Kimberly D WilliamsSarah Williams-Blangero

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