Two rare autosomal recessive neurological disorders identified by combined genetic approaches in a single consanguineous family with multiple offspring
Author:
Funder
Istanbul Üniversitesi
Bezmialem Vakıf Üniversitesi
Türkiye Bilimsel ve Teknolojik Araştırma Kurumu
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10072-023-07211-y.pdf
Reference28 articles.
1. Morris-Rosendahl DJ, Crocq MA (2020) Neurodevelopmental disorders-the history and future of a diagnostic concept. Dialogues Clin Neurosci 22(1):65–72
2. Polyak A, Rosenfeld JA, Girirajan S (2015) An assessment of sex bias in neurodevelopmental disorders. Genome Med 7:94
3. Sanders SJ et al (2015) Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci. Neuron 87(6):1215–1233
4. Snoeijen-Schouwenaars FM et al (2019) Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability. Epilepsia 60(1):155–164
5. Reuter MS et al (2017) Diagnostic yield and novel candidate genes by exome sequencing in 152 consanguineous families with neurodevelopmental disorders. JAMA Psychiat 74(3):293–299
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