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Paper Details

Phenotype expansion and development in Kosaki overgrowth syndrome.
Clin Genet
17
2018
KOGS, Kosaki overgrowth syndrome, PDGFRB, PDGFRB c.1751C, PDGFRB mutations, Patient, Pro584Arg, camptodactyly, joint contractures, lateral ectropion, long palpebral fissures, macrocephaly, myofibroma, patient, patients, scoliosis, triangular face
Author NameAffiliation
Shalini N JhangianiBaylor College of Medicine
Tomasz GambinInstitute of Mother and Child
Tomasz GambinInstitute of Computer Science, Warsaw University of Technology
Tomasz GambinBaylor College of Medicine
Zeynep Coban AkdemirBaylor College of Medicine
Donna M MuznyBaylor College of Medicine
Donna M MuznyBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiTexas Children's Hospital
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiTexas Children's Hospital
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