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Int J Mol Med. 2004 Dec;14(6):977-9.

Two further AHO-like syndrome patients with deletion of glypican 1 gene region in 2q37.2-q37.3.

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1
Institute of Human Genetics and Anthropology, Jena, Germany.

Abstract

In this report, we describe two unrelated patients with mental retardation and brachydactyly E classified as patients suffering from Albright hereditary osteodystrophy-like (AHO-like) syndrome. Fluorescence in situ hybridization (FISH) analysis using 8 different subtelomeric probes in 2q36-37 proved that the patients had subtelomeric 2qter deletions of similar size. The recently proposed candidate gene glypican 1 (GPC1) is deleted in both reported patients.

PMID:
15547662
[Indexed for MEDLINE]
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