Associated Papers
Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies.
Serbinski CR et al.
American Journal of Medical Genetics. Part A, 2024
Craniosynostosis is a feature of Costello syndrome.
Weaver KN et al.
American Journal of Medical Genetics. Part A, 2022
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
32005694 (PubMed )
Supplement: jmedgenet-2019-106377supp005.pdf
Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability.
Stojanovic JR et al.
Journal of Child Neurology, 2020
Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.
Ueda K et al.
American Journal of Medical Genetics. Part A, 2017
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