Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis
作者： John A. Martignetti , Lifeng Tian , Dong Li , Maria Celeste M. Ramirez , Olga Camacho-Vanegas
DOI: 10.1016/J.AJHG.2013.04.024
关键词:
摘要: Infantile myofibromatosis (IM) is a disorder of mesenchymal proliferation characterized by the development of nonmetastasizing tumors in the skin, muscle, bone, and viscera. …
core.ac.uk
sci-hub.se 参考文章(39)
Franz M. Enzinger, Fibrous hamartoma of infancy Cancer. ,vol. 18, pp. 241- 248 ,(1965) , 10.1002/1097-0142(196502)18:2<241::AID-CNCR2820180216>3.0.CO;2-C
Carmen P Montano-Almendras, Jean-Baptiste Demoulin, Platelet-derived growth factors and their receptors in normal and malignant hematopoiesis American journal of blood research. ,vol. 2, pp. 44- 56 ,(2012)
Adam Siepel, Katherine S. Pollard, David Haussler, New Methods for Detecting Lineage-Specific Selection Lecture Notes in Computer Science. pp. 190- 205 ,(2006) , 10.1007/11732990_17
Annika Smith, David Orchard, Infantile myofibromatosis: Two families supporting autosomal dominant inheritance Australasian Journal of Dermatology. ,vol. 52, pp. 214- 217 ,(2011) , 10.1111/J.1440-0960.2011.00730.X
Shaobo Jin, Emil M. Hansson, Saara Tikka, Fredrik Lanner, Cecilia Sahlgren, Filip Farnebo, Marc Baumann, Hannu Kalimo, Urban Lendahl, Notch Signaling Regulates Platelet-Derived Growth Factor Receptor-β Expression in Vascular Smooth Muscle Cells Circulation Research. ,vol. 102, pp. 1483- 1491 ,(2008) , 10.1161/CIRCRESAHA.107.167965
Timothy A. Jennings, Paul H. Duray, Francis S. Collins, Julia Sabetta, Franz M. Enzinger, Infantile myofibromatosis. Evidence for an autosomal-dominant disorder The American Journal of Surgical Pathology. ,vol. 8, pp. 529- 538 ,(1984) , 10.1097/00000478-198407000-00005
Hassib Narchi, Four half‐siblings with infantile myrofibromatosis: a case for autosomal‐recessive inheritance Clinical Genetics. ,vol. 59, pp. 134- 135 ,(2001) , 10.1034/J.1399-0004.2001.590213.X
Raymond C. Bartlett, Richard D. Otis, Andrew O. Laakso, Multiple congenital neoplasms of soft tissues. Report of 4 cases in 1 family. Cancer. ,vol. 14, pp. 913- 920 ,(1961) , 10.1002/1097-0142(196109/10)14:5<913::AID-CNCR2820140503>3.0.CO;2-G
Prateek Kumar, Steven Henikoff, Pauline C Ng, Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nature Protocols. ,vol. 4, pp. 1073- 1081 ,(2009) , 10.1038/NPROT.2009.86
K. Wang, M. Li, H. Hakonarson, ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data Nucleic Acids Research. ,vol. 38, ,(2010) , 10.1093/NAR/GKQ603