Loeys-Dietz Syndrome.
Velchev JD, Van Laer L, Luyckx I, Dietz H, Loeys B.
Adv Exp Med Biol. 2021;1348:251-264. doi: 10.1007/978-3-030-80614-9_11.
Bifid Uvula-An Enigma.
Prasad P, Khalil E, Desai VB, Varma SR, Gunasekaran L, Kumar K, Pradeep S.
J Pharm Bioallied Sci. 2023 Jul;15(Suppl 1):S806-S809. doi: 10.4103/jpbs.jpbs_464_22. Epub 2023 Jul 5.
22q11.2 Deletion Syndrome.
McDonald-McGinn DM, Hain HS, Emanuel BS, Zackai EH.
1999 Sep 23 [updated 2025 May 8]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
Loeys-Dietz Syndrome.
Loeys BL, Dietz HC.
2008 Feb 28 [updated 2024 Sep 12]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
SATB2-Associated Syndrome.
Zarate YA, Bosanko K, Fish J.
2017 Oct 12 [updated 2024 Jun 20]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
Panhypopituitarism and Bifid Uvula.
Singhania P, Deshpande A.
J ASEAN Fed Endocr Soc. 2023;38(1):136-137. doi: 10.15605/jafes.038.01.18. Epub 2022 Dec 15.
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.
Schepers D, Tortora G, Morisaki H, MacCarrick G, Lindsay M, Liang D, Mehta SG, Hague J, Verhagen J, van de Laar I, Wessels M, Detisch Y, van Haelst M, Baas A, Lichtenbelt K, Braun K, van der Linde D, Roos-Hesselink J, McGillivray G, Meester J, Maystadt I, Coucke P, El-Khoury E, Parkash S, Diness B, Risom L, Scurr I, Hilhorst-Hofstee Y, Morisaki T, Richer J, Désir J, Kempers M, Rideout AL, Horne G, Bennett C, Rahikkala E, Vandeweyer G, Alaerts M, Verstraeten A, Dietz H, Van Laer L, Loeys B.
Hum Mutat. 2018 May;39(5):621-634. doi: 10.1002/humu.23407. Epub 2018 Mar 6.
Loeys-Dietz syndrome.
Van Laer L, Dietz H, Loeys B.
Adv Exp Med Biol. 2014;802:95-105. doi: 10.1007/978-94-007-7893-1_7.
Zhu-Tokita-Takenouchi-Kim Syndrome.
Mori M, Lemaire M, Raines G, Stone BS, Ahn EYE.
2025 Sep 25. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC.
N Engl J Med. 2006 Aug 24;355(8):788-98. doi: 10.1056/NEJMoa055695.
