Associated Papers
Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing.
Sirchia F et al.
Pediatric Neurology, 2026
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis.
Timberlake AT et al.
Human Genetics, 2023
Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome.
Alfieri P et al.
Journal of Clinical Medicine, 2022
35887841 (PubMed )
Supplement: jcm-11-04078-s001.zip › jcm-1734309-supplementary.pdf
A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report.
Macchiaiolo M et al.
Orphanet Journal of Rare Diseases, 2022
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.
Tønne E et al.
European Journal of Human Genetics : Ejhg, 2021
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