Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III

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 seve...

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Hoofdauteurs: 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. J., Greiwe, M., Hamm, H., Hennekam, R. C. M., Hinkel, G. K., Hoeltzenbein, M., Kayserili, H., Majewski, F., Mathieu, M., McLeod, R., Midro, A. T., Moog, U., Nagai, T., Niikawa, N., Ørstavik, K. H., Plöchl, E., Seitz, C., Schmidtke, J., Tranebjærg, L., Tsukahara, M., Wittwer, B., Zabel, B., Gillessen-Kaesbach, G., Horsthemke, B.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: The American Society of Human Genetics 2001
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1234936/
https://ncbi.nlm.nih.gov/pubmed/11112658
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