A familial case of Muenke syndrome. Diverse expressivity of theFGFR3Pro252Arg mutation – case report and review of the literature
Author:
Publisher
Informa UK Limited
Subject
Obstetrics and Gynecology,Pediatrics, Perinatology and Child Health
Link
http://www.tandfonline.com/doi/pdf/10.3109/14767058.2013.860520
Reference36 articles.
1. A population-based study of craniosynostosis in metropolitan Atlanta, 1989–2003
2. Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis
3. Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene
4. Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis
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1. Quantitative Craniofacial Analysis and Generation of Human Induced Pluripotent Stem Cells for Muenke Syndrome: A Case Report;Journal of Developmental Biology;2021-09-22
2. Phenotypic variability in Muenke syndrome—observations from five Danish families;Clinical Dysmorphology;2020-01
3. Genome-wide association study in craniosynostosis condition using innovative systematic bioinformatic analysis tools and techniques: Future prospective and clinical practice;Journal of Pediatric Neurosciences;2018
4. Craniosynostosis Syndromes: Genetics to Imaging;Journal of Pediatric Neuroradiology;2016-10-03
5. Ultrasound and MR imaging findings in prenatal diagnosis of craniosynostosis syndromes;Pediatric Radiology;2016-02-25
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