Annals of Pediatric Endocrinology & Metabolism

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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

Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood

Hwa Young Kim, Jung Min Ko

Annals of Pediatric Endocrinology & Metabolism. 2022;27(2):90-97

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FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met

Shannon G. Farmakis, Marwan Shinawi, Michelle Miller-Thomas, Alireza Radmanesh, Thomas E. Herman

Skeletal Radiology. 2014;44(3):441-445

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P02.09: Prenatal diagnosis and genetic counselling of FGFR3 gene‐related fetal skeletal dysplasia with analysis of 13 clinical cases

Y. Liu, Q. Wu

Ultrasound in Obstetrics & Gynecology. 2018;52(S1):144-144

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P09.09: Ultrasonographic clues for prenatal diagnosis of FGFR3‐related skeletal dysplasia

B. Jeong, J. Shim, H. Cho, K. Hwang

Ultrasound in Obstetrics & Gynecology. 2017;50(S1):183-183

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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”

Liangcheng Wang, Isao Horiuchi, Kenjiro Takagi

Prenatal Diagnosis. 2019;39(2):133-133

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Constitutional Disorders of Skeletal Development: The Skeletal Dysplasias

J. Spranger

Acetabular Dysplasia. 1978;157-182

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Finding the significance of stats: insights into FGFR3 activating mutations in Thanatophoric dysplasia

Clinical Genetics. 2008;53(6):430-432

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Radiologic Interpretation of Dysplasia of the Acetabulum

W. Schuster

Acetabular Dysplasia. 1978;73-84

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Acetabular Dysplasia

Progress in Orthopaedic Surgery. 1978;

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Analysis of STAT1 Activation by Six FGFR3 Mutants Associated with Skeletal Dysplasia Undermines Dominant Role of STAT1 in FGFR3 Signaling in Cartilage

Pavel Krejci, Lisa Salazar, Tamara A. Kashiwada, Katarina Chlebova, Alena Salasova, Leslie Michels Thompson, Vitezslav Bryja, Alois Kozubik, William R. Wilcox

PLoS ONE. 2008;3(12):e3961

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