17p13.3 microdeletion including YWHAE and CRK genes: towards a clinical characterization
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Clinical Neurology,Dermatology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10072-020-04424-3.pdf
Reference10 articles.
1. Barros Fontes MI, Dos Santos AP, Rossi Torres F, Lopes-Cendes I, Cendes F, Appenzeller S et al (2017) 17p13.3 microdeletion: insights on genotype-phenotype correlation. Mol Syndromol 8:36–41. https://doi.org/10.1159/000452753
2. Blazejewski SM, Bennison SA, Smith TH, Toyo-Oka K (2018) Neurodevelopmental genetic diseases associated with microdeletions and microduplications of chromosome 17p13.3. Front Genet 9:80. https://doi.org/10.3389/fgene.2018.00080
3. Nagamani SC, Zhang F, Shchelochkov OA, Bi W, Ou Z, Scaglia F et al (2009) Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. J Med Genet 46:825–833. https://doi.org/10.1136/jmg.2009.067637
4. Bruno DL, Anderlid BM, Lindstrand A, van Ravenswaaij-Arts C, Ganesamoorthy D, Lundin J et al (2010) Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. J Med Genet 47:299–311. https://doi.org/10.1136/jmg.2009.069906
5. Cardoso C, Leventer RJ, Ward HL, Toyo-Oka K, Chung J, Gross A et al (2003) Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am J Hum Genet 72:918–930. https://doi.org/10.1086/374320
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2. YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse;Genetics in Medicine;2023-07
3. Clinical findings and genetic analysis of patients with copy number variants involving 17p13.3 using a single nucleotide polymorphism array: a single-center experience;BMC Medical Genomics;2022-12-21
4. Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome;American Journal of Medical Genetics Part A;2022-11-25
5. Prenatal diagnosis of Miller-Dieker syndrome/PAFAH1B1-related lissencephaly: Ultrasonography and genetically investigative results;European Journal of Obstetrics & Gynecology and Reproductive Biology;2022-07
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