Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical)
Reference30 articles.
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1. Overlapping hearing and communication profiles for the deletion and the RAI1 variant form of Smith-Magenis Syndrome (SMS);Journal of Communication Disorders;2024-09
2. Speech, Language, Hearing, and Otopathology Results From the International Smith–Magenis Syndrome Patient Registry;Journal of Speech, Language, and Hearing Research;2024-03-11
3. Pathogenic recurrent copy number variants in 7,078 pregnancies via chromosomal microarray analysis;Journal of Perinatal Medicine;2023-12-12
4. Smith-Magenis Syndrome—Clinical Review, Biological Background and Related Disorders;Genes;2022-02-11
5. Tasimelteon safely and effectively improves sleep in Smith–Magenis syndrome: a double-blind randomized trial followed by an open-label extension;Genetics in Medicine;2021-12
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