Novel phenotype of SIN3A-related disorder diagnosed in adulthood with multi-system involvement
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s41431-023-01506-6.pdf
Reference5 articles.
1. Balasubramanian M, Dingemans AJM, Albaba S, Richardson R, Yates TM, Cox H, et al. Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype. Eur J Hum Genet. 2021;29:625–36. https://doi.org/10.1038/s41431-020-00769-7
2. Witteveen JS, Willemsen MH, Dombroski TCD, van Bakel NHM, Nillesen WM, vanHulten JA, et al. Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. Nat Genet. 2016;48:877–87.
3. Dattani MT. Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter? Clin Endocrinol. 2005;63:121–30.
4. Dongen LCM, Wingbermühle E, Dingemans AJM, Bos‐Roubos AG, Vermeulen K, Pop‐Purceleanu M, et al. Behavior and cognitive functioning in Witteveen–Kolk syndrome. Am J Med Genet A. 2020;182:2384–90.
5. Jacobson A, Bohnsack BL. Anterior megalophthalmos in sisters with Witteveen-Kolk syndrome. J Am Assoc Pediatric Ophthalmol Strabismus. 2022;26:148–50.
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