Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus).
Van Buggenhout G, Fryns JP.
Orphanet J Rare Dis. 2006 Jul 10;1:26. doi: 10.1186/1750-1172-1-26.
Syndrome(s) X.
[No authors listed]
Lancet. 1991 Apr 13;337(8746):916-7.
[VEXAS syndrome].
Zeeck M, Kötter I, Krusche M.
Z Rheumatol. 2022 Nov;81(9):782-786. doi: 10.1007/s00393-022-01169-6. Epub 2022 Feb 18.
[VEXAS syndrome].
Krusche M, Ruffer N, Kötter I, Sockel K.
Z Rheumatol. 2025 Oct;84(8):647-657. doi: 10.1007/s00393-025-01712-1. Epub 2025 Sep 17.
Molecular-clinical spectrum of the ATR-X syndrome.
Gibbons RJ, Higgs DR.
Am J Med Genet. 2000 Fall;97(3):204-12. doi: 10.1002/1096-8628(200023)97:3<204::AID-AJMG1038>3.0.CO;2-X.
[X-linked alpha-thalassemia/mental retardation syndrome].
Wada T.
Rinsho Byori. 2009 Apr;57(4):382-90.
The Histopathology of Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic Syndrome: Report of 12 Skin Biopsies From 6 Patients.
Brumbaugh BJ, Laga AC, Pouli D, Fernandez-Figueras MT, Hoang MP.
Am J Dermatopathol. 2024 Oct 1;46(10):637-647. doi: 10.1097/DAD.0000000000002716. Epub 2024 Apr 23.
Syndromes of the first and second branchial arches, part 1: embryology and characteristic defects.
Johnson JM, Moonis G, Green GE, Carmody R, Burbank HN.
AJNR Am J Neuroradiol. 2011 Jan;32(1):14-9. doi: 10.3174/ajnr.A2072. Epub 2010 Mar 18.
Syndromic Craniosynostosis.
Sawh-Martinez R, Steinbacher DM.
Clin Plast Surg. 2019 Apr;46(2):141-155. doi: 10.1016/j.cps.2018.11.009.
[Syndrome X].
Sinzinger H.
Vasa Suppl. 1991;33:69-70.
