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Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management.
Swarr DT, Bloom D, Lewis RA, Elenberg E, Friedman EM, Glotzbach C, Wissman SD, Shaffer LG, Potocki L. Swarr DT, et al. Am J Med Genet A. 2010 Mar;152A(3):565-72. doi: 10.1002/ajmg.a.33245. Am J Med Genet A. 2010. PMID: 20140962 Review.
Potocki-Shaffer syndrome is a rare contiguous gene deletion syndrome due to haploinsufficiency of the 11p11.2p12 region and is characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal forami …
Potocki-Shaffer syndrome is a rare contiguous gene deletion syndrome due to haploinsufficiency of the 11p11.2p12 region …
Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function.
McCool C, Spinks-Franklin A, Noroski LM, Potocki L. McCool C, et al. Am J Med Genet A. 2017 Mar;173(3):716-720. doi: 10.1002/ajmg.a.37988. Epub 2017 Jan 27. Am J Med Genet A. 2017. PMID: 28127865
Potocki-Shaffer syndrome is a contiguous gene deletion syndrome involving 11p11.2p12 and characterized by multiple exostoses, biparietal foramina, genitourinary anomalies in males, central nervous system abnormalities, intellectual disability, and craniofacia …
Potocki-Shaffer syndrome is a contiguous gene deletion syndrome involving 11p11.2p12 and characterized by multiple exos …
The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses.
Sohn YB, Yim SY, Cho EH, Kim OH. Sohn YB, et al. J Korean Med Sci. 2015 Feb;30(2):214-7. doi: 10.3346/jkms.2015.30.2.214. Epub 2015 Jan 21. J Korean Med Sci. 2015. PMID: 25653495 Free PMC article.
Potocki-Shaffer syndrome (PSS, OMIM #601224) is a rare contiguous gene deletion syndrome caused by haploinsufficiency of genes located on the 11p11.2p12. ...
Potocki-Shaffer syndrome (PSS, OMIM #601224) is a rare contiguous gene deletion syndrome caused by haploinsufficiency o …
PHF21A Related Disorder: Description of a New Case.
Butera A, Nicotera AG, Di Rosa G, Musumeci SA, Vitello GA, Musumeci A, Vinci M, Gloria A, Federico C, Saccone S, Calì F. Butera A, et al. Int J Mol Sci. 2022 Dec 17;23(24):16130. doi: 10.3390/ijms232416130. Int J Mol Sci. 2022. PMID: 36555772 Free PMC article.
BHC80 is mainly expressed in the human fetal brain and skeletal muscle and acts as a modulator of several neuronal genes during embryogenesis. Data from literature relates PHF21A variants with Potocki-Shaffer Syndrome (PSS), a contiguous gene deletion disorde …
BHC80 is mainly expressed in the human fetal brain and skeletal muscle and acts as a modulator of several neuronal genes during embryogenesi …
11p11.12p12 duplication in a family with intellectual disability and craniofacial anomalies.
Chen X, Xu H, Shi W, Wang F, Xu F, Zhang Y, Gan J, Tian X, Chen B, Dai M. Chen X, et al. BMC Med Genomics. 2021 Apr 9;14(1):99. doi: 10.1186/s12920-021-00945-8. BMC Med Genomics. 2021. PMID: 33836758 Free PMC article.
BACKGROUND: Potocki-Shaffer syndrome (PSS) is a rare contiguous gene deletion syndrome marked by haploinsufficiency of genes in chromosomal region 11p11.2p12. ...
BACKGROUND: Potocki-Shaffer syndrome (PSS) is a rare contiguous gene deletion syndrome marked by haploinsufficiency of …
A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia.
Montgomery ND, Turcott CM, Tepperberg JH, McDonald MT, Aylsworth AS. Montgomery ND, et al. Am J Med Genet A. 2013 Jan;161A(1):198-202. doi: 10.1002/ajmg.a.35671. Epub 2012 Dec 13. Am J Med Genet A. 2013. PMID: 23239541
Potocki-Shaffer syndrome (PSS) is a rare disorder caused by haploinsufficiency of genes located on the proximal short arm of chromosome 11 (11p11.2p12). ...
Potocki-Shaffer syndrome (PSS) is a rare disorder caused by haploinsufficiency of genes located on the proximal short a …
Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype.
Ferrarini A, Gaillard M, Guerry F, Ramelli G, Heidi F, Keddache CV, Wieland I, Beckmann JS, Jaquemont S, Martinet D. Ferrarini A, et al. Am J Med Genet A. 2014 Feb;164A(2):346-52. doi: 10.1002/ajmg.a.36140. Epub 2013 Dec 13. Am J Med Genet A. 2014. PMID: 24376213
Deletions in this region have been described in patients with Potocki-Shaffer syndrome (PSS), characterized by biparietal foramina, multiple exostoses, and intellectual disability. ...
Deletions in this region have been described in patients with Potocki-Shaffer syndrome (PSS), characterized by bipariet …
14 results