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Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum.
Koutlas IG, Anbinder AL, Alshagroud R, Rodrigues Cavalcante AS, Al Kindi M, Crenshaw MM, Sapp JC, Kondolf H, Lindhurst MJ, Dudley JN, Johnston JJ, Ryan E, Rafferty K, Ganguly A, Biesecker LG. Koutlas IG, et al. Among authors: crenshaw mm. HGG Adv. 2020 Aug 14;1(1):100009. doi: 10.1016/j.xhgg.2020.100009. eCollection 2020 Oct 22. HGG Adv. 2020. PMID: 35047831 Free PMC article.
Erratum: Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum.
Koutlas IG, Anbinder AL, Alshagroud R, Rodrigues Cavalcante AS, Al Kindi M, Crenshaw MM, Sapp JC, Kondolf H, Lindhurst MJ, Dudley JN, Johnston JJ, Ryan E, Rafferty K, Ganguly A, Biesecker LG. Koutlas IG, et al. Among authors: crenshaw mm. HGG Adv. 2021 Oct 26;3(1):100062. doi: 10.1016/j.xhgg.2021.100062. eCollection 2022 Jan 13. HGG Adv. 2021. PMID: 35051255 Free PMC article.
Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome.
Johnston JJ, Lee C, Wentzensen IM, Parisi MA, Crenshaw MM, Sapp JC, Gross JM, Wallingford JB, Biesecker LG. Johnston JJ, et al. Among authors: crenshaw mm. Cold Spring Harb Mol Case Stud. 2017 Jul 5;3(4):a001321. doi: 10.1101/mcs.a001321. Print 2017 Jul. Cold Spring Harb Mol Case Stud. 2017. PMID: 28679688 Free PMC article.
A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.
Johnston JJ, Sanchez-Contreras MY, Keppler-Noreuil KM, Sapp J, Crenshaw M, Finch NA, Cormier-Daire V, Rademakers R, Sybert VP, Biesecker LG. Johnston JJ, et al. Am J Hum Genet. 2015 Sep 3;97(3):465-74. doi: 10.1016/j.ajhg.2015.07.009. Epub 2015 Aug 13. Am J Hum Genet. 2015. PMID: 26279204 Free PMC article.
13 results