Missense mutation of TRPS1 in a family of tricho-r...[Am J Med Genet. 2002]

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1: Am J Med Genet. 2002 Jan 1;107(1):26-9. Links

Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III.

Kobayashi H, Hino M, Shimodahira M, Iwakura T, Ishihara T, Ikekubo K, Ogawa Y, Nakao K, Kurahachi H.

Department of Endocrinology, Kobe City General Hospital, Kobe, Japan. hiromasa_kobayashi@medical.general.hp.city.kobe.jp

We report a new Japanese family with tricho-rhino-phalangeal syndrome type III (TRPS III) who have a missense mutation (Arg908Gln) of theTRPS1 gene (TRPS1) in affected individuals of the family. This study supports the notion that TRPS III results from missense mutations in exon 6 of TRPS1. Copyright 2001 Wiley-Liss, Inc.

PMID: 11807863 [PubMed - indexed for MEDLINE]

Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes.
J Hum Genet. 2002; 47(3):103-6.

[J Hum Genet. 2002]
Tricho-rhino-phalangeal syndrome with supernumerary teeth.
J Dent Res. 2008 Nov; 87(11):1027-31.

[J Dent Res. 2008]
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
Am J Hum Genet. 2001 Jan; 68(1):81-91. Epub 2000 Dec 7.

[Am J Hum Genet. 2001]
Review[Langer-Giedion syndrome(tricho-rhino-phalangeal syndrome, type II; TRPS II)]
Ryoikibetsu Shokogun Shirizu. 2000; (30 Pt 5):203-4.

[Ryoikibetsu Shokogun Shirizu. 2000]
Review[Tricho-rhino-phalangeal syndrome, type II]
Ryoikibetsu Shokogun Shirizu. 2001; (34 Pt 2):755-6.

[Ryoikibetsu Shokogun Shirizu. 2001]
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Cited by 1 PubMed Central article

The gene associated with trichorhinophalangeal syndrome in humans is overexpressed in breast cancer.
Radvanyi L, Singh-Sandhu D, Gallichan S, Lovitt C, Pedyczak A, Mallo G, Gish K, Kwok K, Hanna W, Zubovits J, et al. Proc Natl Acad Sci U S A. 2005 Aug 2; 102(31):11005-10. Epub 2005 Jul 25.

[Proc Natl Acad Sci U S A. 2005]

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