Genetics of Radial Deficiencies

de Graaff, Esther; Kozin, Scott H.
July 2009
Journal of Bone & Joint Surgery, American Volume;Jul2009 Supplement 4, Vol. 91-A, p81
Academic Journal
The article describes the genetics of the various syndromes commonly associated with radial longitudinal deficiencies. These syndromes include the thrombocytopenia-absent radius syndrome, the Holt-Oram and the Fanconi anemia syndrome. The authors note that the frequent involvement of modifier genes and the environment are suggestive of the wide phenotypic variability of the various syndromes.


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