Letter to the editor regarding Disciglio et al.: Interstitial 22q13 deletions not involvingSHANK3gene: A new contiguous gene syndrome
Author:
Affiliation:
1. Department of Pediatrics; Hayward Genetics Center; Tulane University School of Medicine; New Orleans Louisiana
2. Greenwood Genetic Center; Greenwood; South Carolina
3. Biological Sciences; University of Alberta; Edmonton Alberta Canada
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36788/fullpdf
Reference7 articles.
1. Interstitial deletions not involving SHANK3 gene: A new contiguous gene syndrome;Disciglio;Am J Med Genet A,2014
2. Girl with accelerated growth, hearing loss, inner ear anomalies, delayed myelination of the brain, and del(22)(q13. 1q13. 2);Fujita;Am J Med Genet,2000
3. Partial monosomy for chromosome 22 in patient with del(22)(pter-q13.1::q13.3-qter);Romain;J Med Genet,1990
4. Clinical and genetic evaluation of 201 patients with Phelan-McDermid syndrome;Sarasua;Hum Genet,2014a
5. 22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome;Sarasua;Genet Med,2014b
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1. Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan‐McDermid syndrome;Clinical Genetics;2024-02-27
2. Phelan-McDermid syndrome: a classification system after 30 years of experience;Orphanet Journal of Rare Diseases;2022-01-29
3. Genetic Findings as the Potential Basis of Personalized Pharmacotherapy in Phelan-McDermid Syndrome;Genes;2021-07-30
4. Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome;PLOS ONE;2021-07-06
5. First-Tier Array CGH in Clinically Variable Entity Diagnosis: 22q13.3 Deletion Syndrome;Chromosomal Abnormalities;2020-11-11
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