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Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I.
Nat Genet. 2000 Jan;24(1):71-4. doi: 10.1038/71717.
Nat Genet. 2000.
PMID: 10615131
Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8.
Lüdecke HJ, Schmidt O, Nardmann J, von Holtum D, Meinecke P, Muenke M, Horsthemke B.
Lüdecke HJ, et al. Among authors: von holtum d.
Hum Genet. 1999 Dec;105(6):619-28. doi: 10.1007/s004399900176.
Hum Genet. 1999.
PMID: 10647898
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The EIF3S3 gene encoding the p40 subunit of the translation initiation factor eIF3 has eight exons and maps to the Langer-Giedion syndrome chromosome region on 8q24, but is not the TRPS1 gene.
Schmidt O, von Holtum D, Gross S, Horsthemke B, Lüdecke HJ.
Schmidt O, et al. Among authors: von holtum d.
Hum Genet. 1999 Dec;105(6):662-4. doi: 10.1007/s004399900175.
Hum Genet. 1999.
PMID: 10647903
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Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
Lüdecke HJ, Schaper J, Meinecke P, Momeni P, Gross S, von Holtum D, Hirche H, Abramowicz MJ, Albrecht B, Apacik C, Christen HJ, Claussen U, Devriendt K, Fastnacht E, Forderer A, Friedrich U, Goodship TH, Greiwe M, Hamm H, Hennekam RC, Hinkel GK, Hoeltzenbein M, Kayserili H, Majewski F, Mathieu M, McLeod R, Midro AT, Moog U, Nagai T, Niikawa N, Orstavik KH, Plöchl E, Seitz C, Schmidtke J, Tranebjaerg L, Tsukahara M, Wittwer B, Zabel B, Gillessen-Kaesbach G, Horsthemke B.
Lüdecke HJ, et al. Among authors: von holtum d.
Am J Hum Genet. 2001 Jan;68(1):81-91. doi: 10.1086/316926. Epub 2000 Dec 7.
Am J Hum Genet. 2001.
PMID: 11112658
Free PMC article.
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