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

Authors :: Ludecke, H.-J.
Schaper, J.
Meinecke, P.
Momeni, P.
GroB, S.
yon 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.
Source :: American Journal of Human Genetics. Jan2001, Vol. 68 Issue 1, p81-91. 11p. 3 Diagrams, 1 Graph.
Publication Year :: 2001
Abstract: Focuses on a study which investigated the genotype-phenotype mutations of tricho-rhino-phalangeal syndrome (TRPS) in patients with TRPS I and TRPS III. Description of TRPS sub-types; Evaluation on the degree of brachydactyly symptoms in patients with TRPS III; Spectrum of TRPS1 mutations.

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