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DOI 10.1016/j.gim.2026.102577

Медицинская библиотека · Genetics in medicine : official journal of the American College of Medical Genetics · 2026

Loeys-Dietz syndrome: 2026 updated care management primer.

MacCarrick Gretchen, Afifi Rana O, Allen Rebecca, Almpani Konstantinia, Black James H, Boyce Alison M, Braverman Alan C, Cameron Duke E, Caplan Justin, Cervi Elena, Cha Myung-Jin, Christensen Julie, van de Laar Ingrid Mbh, Demo Erin, Dewals Wendy, Doyle Alexander J, Doyle Jefferson J, Fischbein Michael P, Fleischer Julie, Fleischman Fernando, Frischmeyer-Guerrerio Pamela A, Guerrerio Anthony L, Huguenard Anna L, Jani Priyam H, Jordan Christopher P, Kim H Jeffrey, Krebsová Alice, Kockova Radka, Lee Janice S, Lobner Katie, Narula Nupoor, Niknahad Ava, Neptune Enid, Pedroza Albert J, Perry Monique, Richer Julie, Rios-Sanchez Jennifer, Roman Mary J, Russo Melissa, Schweber Jonathan, Shalhub Sherene, Sorber Rebecca, Speed Traci, Sponseller Paul D, Vincent T L, Whelan Anna, Zeiler Steven R, Loeys Bart, Dietz Harry C

СтатьяОбзорResearch Support, N.I.H., IntramuralПоддержка NIH: внешняя программаПеревод в очереди

Аннотация

Loeys-Dietz syndrome (LDS) represents a clinically and genetically heterogeneous group of connective tissue disorders that share features similar to Marfan syndrome, first identified in 2005. Characterized by significant manifestations, such as aortic aneurysms, arterial tortuosity, craniofacial and skeletal anomalies, LDS results from pathogenic variants in key genes of the transforming growth factor-beta signaling pathway. Given its variable expressivity, a multidisciplinary approach to management is critical. The article provides an updated overview of effective management practices since the first LDS primer in 2014. It aims to enhance clinical awareness, inform health care providers, and improve patient outcomes through individualized care strategies for those living with LDS.

Для цитирования: MacCarrick Gretchen, Afifi Rana O, Allen Rebecca, Almpani Konstantinia, Black James H, Boyce Alison M, Braverman Alan C, Cameron Duke E, Caplan Justin, Cervi Elena, Cha Myung-Jin, Christensen Julie, van de Laar Ingrid Mbh, Demo Erin, Dewals Wendy, Doyle Alexander J, Doyle Jefferson J, Fischbein Michael P, Fleischer Julie, Fleischman Fernando, Frischmeyer-Guerrerio Pamela A, Guerrerio Anthony L, Huguenard Anna L, Jani Priyam H, Jordan Christopher P, Kim H Jeffrey, Krebsová Alice, Kockova Radka, Lee Janice S, Lobner Katie, Narula Nupoor, Niknahad Ava, Neptune Enid, Pedroza Albert J, Perry Monique, Richer Julie, Rios-Sanchez Jennifer, Roman Mary J, Russo Melissa, Schweber Jonathan, Shalhub Sherene, Sorber Rebecca, Speed Traci, Sponseller Paul D, Vincent T L, Whelan Anna, Zeiler Steven R, Loeys Bart, Dietz Harry C. Loeys-Dietz syndrome: 2026 updated care management primer.. Genetics in medicine : official journal of the American College of Medical Genetics. 2026. DOI: 10.1016/j.gim.2026.102577.

Предметные рубрики MeSH

HumansLoeys-Dietz SyndromeSignal TransductionTransforming Growth Factor betaMarfan SyndromeAortic AneurysmPrecision Medicine
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