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Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood | |
Hwa Young Kim, Jung Min Ko | |
Ann Pediatr Endocrinol Metab. 2022;27(2):90-97. Published online June 30, 2022 DOI: https://doi.org/10.6065/apem.2244114.057 |
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Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met P02.09: Prenatal diagnosis and genetic counselling of FGFR3 gene-related fetal skeletal dysplasia with analysis of 13 clinical cases P09.09: Ultrasonographic clues for prenatal diagnosis of FGFR3-related skeletal dysplasia Comment on “noninvasive prenatal test for FGFR3-related skeletal dysplasia based on next-generation sequencing and plasma cell-free DNA: Test performance analysis and feasibility exploration” Constitutional Disorders of Skeletal Development: The Skeletal Dysplasias Finding the significance of stats: insights into FGFR3 activating mutations in Thanatophoric dysplasia Radiologic Interpretation of Dysplasia of the Acetabulum Acetabular Dysplasia Analysis of STAT1 Activation by Six FGFR3 Mutants Associated with Skeletal Dysplasia Undermines Dominant Role of STAT1 in FGFR3 Signaling in Cartilage |