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Genetics in Medicine, ISSN 1098-3600, 01/2018, Volume 20, Issue 1, pp. 142 - 150
Purpose: Heterozygous germ-line activating mutations in PDGFRB cause Kosaki and Penttinen syndromes and myofibromatosis. We describe a 10-year-old child with a... 
imatinib | exome | PDGFRB mutation | myofibromatosis | OVERGROWTH SYNDROME | TARGETED THERAPY | FAMILIAL INFANTILE MYOFIBROMATOSIS | ACTIVATION | BASAL GANGLIA CALCIFICATION | RECEPTOR | MEDICAL GENETICS | TUMORS | GROWTH | GENETICS & HEREDITY | PHOSPHOLIPASE-C-GAMMA | Phosphorylation | Mutation | Index Medicus
Journal Article
Pediatric Blood & Cancer, ISSN 1545-5009, 01/2018, Volume 65, Issue 1, pp. e26756 - n/a
Because children diagnosed with WNT‐activated medulloblastoma have a 10‐year overall survival rate of 95%, active long‐term follow‐up is critically important... 
Wnt signaling pathway | FAP | APC mutations | medulloblastoma | pilomatrixoma | PILOMATRICOMAS | ONCOLOGY | PEDIATRICS | BETA-CATENIN | HEMATOLOGY | CANCER | TUMORS | Hair Diseases - pathology | Hair Diseases - genetics | Cancer Survivors | Cerebellar Neoplasms - diagnosis | Humans | Wnt Proteins - metabolism | Adenomatous Polyposis Coli - pathology | Pilomatrixoma - diagnosis | Wnt Proteins - genetics | Hair Diseases - metabolism | Medulloblastoma - pathology | Skin Neoplasms - diagnosis | Pilomatrixoma - genetics | Germ-Line Mutation | Female | Cerebellar Neoplasms - pathology | Neoplasms, Second Primary - genetics | Adenomatous Polyposis Coli - genetics | Medulloblastoma - genetics | Child | Cerebellar Neoplasms - metabolism | Adenomatous Polyposis Coli Protein - genetics | Skin Neoplasms - pathology | Medulloblastoma - diagnosis | Medulloblastoma - metabolism | Pilomatrixoma - pathology | Cerebellar Neoplasms - genetics | Hair Diseases - diagnosis | Adenomatous Polyposis Coli - metabolism | Neoplasms, Second Primary - diagnosis | Skin Neoplasms - metabolism | Neoplasms, Second Primary - metabolism | Skin Neoplasms - genetics | Adenomatous Polyposis Coli Protein - metabolism | Pilomatrixoma - metabolism | Neoplasms, Second Primary - pathology | Adenomatous Polyposis Coli - diagnosis | Medulloblastoma | Polyposis, Familial | Genetic aspects | Wnt protein | Familial adenomatous polyposis | Adenomatous polyposis coli | Endoscopes | Point mutation | Children | Endoscopy | Mutation | Diagnosis | Polyps | Adenomatous polyposis coli protein | Cancer | Index Medicus
Journal Article
Genetics in Medicine, ISSN 1098-3600, 04/2019, Volume 21, Issue 4, pp. 867 - 876
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 03/2019, Volume 21, Issue 3, pp. 764 - 765
A correction has been published to this Article. The PDF and HTML have been updated accordingly. 
Journal Article
by Koczkowska, Magdalena and Chen, Zhenbin and Chen, Yunjia and Callens, Tom and Gomes, Alicia and Sharp, Angela and Johnson, Sherrell and Hsiao, Meng-Chang and Balasubramanian, Meena and Barnett, Christopher P and Becker, Troy A and Ben-Shachar, Shay and Bertola, Debora R and Blakeley, Jaishri O and Burkitt-Wright, Emma M.M and Callaway, Alison and Crenshaw, Melissa and Cunha, Karin S and Cunningham, Mitch and D’Agostino, Maria D and Dahan, Karin and De Luca, Alessandro and Destrée, Anne and Dhamija, Radhika and Eoli, Marica and Evans, D. Gareth R and Galvin-Parton, Patricia and George-Abraham, Jaya K and Gripp, Karen W and Guevara-Campos, Jose and Hanchard, Neil A and Hernández-Chico, Concepcion and Immken, LaDonna and Janssens, Sandra and Jones, Kristi J and Keena, Beth A and Kochhar, Aaina and Liebelt, Jan and Martir-Negron, Arelis and Mahoney, Maurice J and Maystadt, Isabelle and McDougall, Carey and McEntagart, Meriel and Mendelsohn, Nancy and Miller, David T and Mortier, Geert and Morton, Jenny and Pappas, John and Plotkin, Scott R and Pond, Dinel and Rosenbaum, Kenneth and Rubin, Karol and Russell, Laura and Rutledge, Lane S and Saletti, Veronica and Schonberg, Rhonda and Schreiber, Allison and Seidel, Meredith and Siqveland, Elizabeth and Stockton, David W and Trevisson, Eva and Ullrich, Nicole J and Upadhyaya, Meena and van Minkelen, Rick and Verhelst, Helene and Wallace, Margaret R and Yap, Yoon-Sim and Zackai, Elaine and Zonana, Jonathan and Zurcher, Vickie and Claes, Kathleen and Martin, Yolanda and Korf, Bruce R and Legius, Eric and Messiaen, Ludwine M
The American Journal of Human Genetics, ISSN 0002-9297, 01/2018, Volume 102, Issue 1, pp. 69 - 87
Journal Article
03/2009, Volume 92, Issue 3
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition affecting the skin, peripheral nervous system, and skeletal system. Half of all cases... 
Diagnosis, Differential | Cross-Sectional Studies | Follow-Up Studies | Neurofibromatosis 1 - epidemiology | Humans | Child, Preschool | Infant | Neurofibromatosis 1 - diagnosis | Minnesota | Genetic Counseling | Adolescent | Neurofibromatosis 1 - genetics | Child | Neurofibromin 1 - genetics
Magazine Article
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