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Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
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Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. Am J Hum Genet. 2016 Mar 03; 98(3):579-587.
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PubMed
subject areas
Adolescent
Cell Line, Tumor
Central Nervous System Neoplasms
Child, Preschool
Exome
Eye
Eye Diseases
Female
Humans
Infant
Lipomatosis
Male
Mutation
Mutation, Missense
Neurocutaneous Syndromes
Phosphatidylinositol 3-Kinases
Proto-Oncogene Proteins c-akt
Receptor, Fibroblast Growth Factor, Type 1
Seizures
Sequence Analysis, DNA
authors with profiles
William B. Dobyns