These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
8. Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance. Lee BH; Kasparis C; Chen B; Mei H; Edelmann L; Moss C; Weaver DD; Desnick RJ J Hum Genet; 2015 Nov; 60(11):717-22. PubMed ID: 26311541 [TBL] [Abstract][Full Text] [Related]
9. The TWIST2 mutation causes Setleis syndrome: a rare clinical case report. Ayaz A; Yalcintepe S; Ozalp Yuregir O; Sahin Y; Ozer A; Eser M; Celik U Clin Dysmorphol; 2017 Apr; 26(2):128-131. PubMed ID: 27750268 [No Abstract] [Full Text] [Related]
10. Autosomal dominant inheritance in a large family with focal facial dermal dysplasia (Brauer-Setleis syndrome). Graul-Neumann LM; Stieler KM; Blume-Peytavi U; Tzschach A Am J Med Genet A; 2009 Feb; 149A(4):746-50. PubMed ID: 19291768 [TBL] [Abstract][Full Text] [Related]
11. Expression Profiling Identifies TWIST2 Target Genes in Setleis Syndrome Patient Fibroblast and Lymphoblast Cells. Crespo NE; Torres-Bracero A; Renta JY; Desnick RJ; Cadilla CL Int J Environ Res Public Health; 2021 Feb; 18(4):. PubMed ID: 33669496 [No Abstract] [Full Text] [Related]
12. The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity. Lee BH; Aggarwal A; Slavotinek A; Edelmann L; Chen B; Desnick RJ J Med Genet; 2017 Sep; 54(9):585-590. PubMed ID: 28663233 [TBL] [Abstract][Full Text] [Related]
13. A Novel PORCN Frameshift Mutation Leading to Focal Dermal Hypoplasia: A Case Report. Durmaz CD; McGrath J; Liu L; Karabulut HG Cytogenet Genome Res; 2018; 154(3):119-121. PubMed ID: 29525789 [TBL] [Abstract][Full Text] [Related]
14. Autosomal dominant inheritance in Setleis syndrome. Masuno M; Imaizumi K; Makita Y; Nakamura M; Kuroki Y Am J Med Genet; 1995 May; 57(1):57-60. PubMed ID: 7645599 [TBL] [Abstract][Full Text] [Related]
15. Evidence for genetic homogeneity of Setleis' syndrome and focal facial dermal dysplasia. Ward KA; Moss C Br J Dermatol; 1994 May; 130(5):645-9. PubMed ID: 8204474 [TBL] [Abstract][Full Text] [Related]
17. Mosaic focal dermal hypoplasia caused by a novel somatic mutation in PORCN detected in affected skin. Sheu J; Divito SJ; Hoffman EP; Frank NY; Merola JF Br J Dermatol; 2015 Aug; 173(2):568-70. PubMed ID: 25640089 [No Abstract] [Full Text] [Related]
18. Focal facial dermal dysplasias type III: Two families with Setleis syndrome in China. Cao Q; Zhang S; Wang J; Wang Y; Pan C; Wang X; Zhao A; Chen X; Qin P; Zhang S; Yao Z; Lv D; Yang Y; Li M J Dermatol; 2022 Oct; 49(10):1057-1061. PubMed ID: 35713327 [TBL] [Abstract][Full Text] [Related]
19. De novo triplication at 1p36.23p36.22 further refines the dosage sensitive region of overlap in Setleis syndrome (focal facial dermal dysplasia type III). Oh RY; Chun K; Kowalski PE; Chitayat D Am J Med Genet A; 2023 Jun; 191(6):1607-1613. PubMed ID: 36942595 [TBL] [Abstract][Full Text] [Related]
20. Autosomal recessive inheritance in the Setleis bitemporal 'forceps marks' syndrome. Marion RW; Chitayat D; Hutcheon RG; Goldberg R; Shprintzen RJ; Cohen MM Am J Dis Child; 1987 Aug; 141(8):895-7. PubMed ID: 3631024 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]