Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis

Infantile myofibromatosis (IM) is a disorder of mesenchymal proliferation characterized by the development of nonmetastasizing tumors in the skin, muscle, bone, and viscera. Occurrence within families across multiple generations is suggestive of an autosomal-dominant (AD) inheritance pattern, but au...

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Veröffentlicht in:	American journal of human genetics 2013-06, Vol.92 (6), p.1001-1007
Hauptverfasser:	Martignetti, John A., Tian, Lifeng, Li, Dong, Ramirez, Maria Celeste M., Camacho-Vanegas, Olga, Camacho, Sandra Catalina, Guo, Yiran, Zand, Dina J., Bernstein, Audrey M., Masur, Sandra K., Kim, Cecilia E., Otieno, Frederick G., Hou, Cuiping, Abdel-Magid, Nada, Tweddale, Ben, Metry, Denise, Fournet, Jean-Christophe, Papp, Eniko, McPherson, Elizabeth W., Zabel, Carrie, Vaksmann, Guy, Morisot, Cyril, Keating, Brendan, Sleiman, Patrick M., Cleveland, Jeffrey A., Everman, David B., Zackai, Elaine, Hakonarson, Hakon
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Base Sequence Female Genes Genes, Dominant Genetic Association Studies Genetic disorders Humans Male Medical treatment Mutation Mutation, Missense Myofibromatosis - congenital Myofibromatosis - genetics Pedigree Receptor, Notch3 Receptor, Platelet-Derived Growth Factor beta - genetics Receptors, Notch - genetics Sequence Analysis, DNA Tumors
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