Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I

Author:

Momeni Parastoo,Glöckner Gernot,Schmidt Olaf,von Holtum Diane,Albrecht Beate,Gillessen-Kaesbach Gabriele,Hennekam Raoul,Meinecke Peter,Zabel Bernhard,Rosenthal André,Horsthemke Bernhard,Lüdecke Hermann-Josef

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Reference19 articles.

1. Giedion, A., Burdea, M., Fruchter, Z., Meloni, T. & Trosc, V. Autosomal dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases. Helv. Paediatr. Acta 28, 249–259 (1973).

2. Lüdecke, H.-J., et al. Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome. Hum. Mol. Genet. 4, 31–36 ( 1995).

3. Hou, J., et al. A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1). Genomics 29, 87–97 ( 1995).

4. Lüdecke, H.-J. et al. Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8. Hum. Genet. (in press).

5. Ahn, J., et al. Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). Nature Genet. 11, 137–143 (1995).

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