Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion

Author:

Wuyts Wim,Roland Dominique,Lüdecke Hermann-Josef,Wauters Jan,Foulon Martine,Van Hul Wim,Maldergem Lionel Van

Publisher

Wiley

Subject

Genetics(clinical)

Reference36 articles.

1. Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1);Ahn;Nat Genet,1995

2. A new case of Ambras syndrome associated with a paracentric inversion (8)(q12; q22);Balducci;Clin Genet,1998

3. Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis and mental retardation, caused by deletions on the short arm of chromosome 11;Bartsch;Am J Hum Genet,1996

4. Ambras syndrome: delineation of a unique hypertrichosis universalis congenita and association with a balanced pericentric inversion (8)(p11.2; q22);Baumeister;Clin Genet,1993

5. Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes;Bernard;Cell Motil Cytoskeleton,2001

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