Article
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
American journal of human genetics - 1 Jan 2001
Lüdecke H J, Schaper J, Meinecke P, Momeni P, Gross S, von Holtum D, Hirche H, Abramowicz M J, Albrecht B, Apacik C, Christen H J, Claussen U, Devriendt K, Fastnacht E, Forderer A, Friedrich U, Goodship T H, Greiwe M, Hamm H, Hennekam R C, Hinkel G K, Hoeltzenbein M, Kayserili H, Majewski F, Mathieu M, McLeod R, Midro A T, Moog U, Nagai T, Niikawa N, Orstavik K H, Plöchl E, Seitz C, Schmidtke J, Tranebjaerg L, Tsukahara M, Wittwer B, Zabel B, Gillessen-Kaesbach G, Horsthemke B
Abstract excerpt
Tricho-rhino-phalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities. Three subtypes have been described: TRPS I, caused by mutations in the TRPS1 gene on chromosome 8; TRPS II, a microdeletion syndrome affecting the TRPS1 and EXT1 genes; and TRPS III, a form with s...
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