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Items: 4

Select item 110074851.

Audiologic and Otologic Clinical Manifestations of Loeys-Dietz Syndrome: A Heritable Connective Tissue Disorder

Jun W. Jeon, Julie Christensen, Jennifer Chisholm, Christopher Zalewski, Marjohn Rasooly, Caeden Dempsey, Alaina Magnani, Pamela Frischmeyer-Guerrerio, Carmen C. Brewer, Hung Jeffrey Kim

Otolaryngol Head Neck Surg. Author manuscript; available in PMC 2024 Apr 11.

Published in final edited form as: Otolaryngol Head Neck Surg. 2022 Feb; 166(2): 357–362. Published online 2021 May 11. doi: 10.1177/01945998211008899

PMCID:: PMC11007485

Article PDF–345K

Select item 85360702.

Differential Diagnosis between Marfan Syndrome and Loeys–Dietz Syndrome Type 4: A Novel Chromosomal Deletion Covering TGFB2

Stefano Nistri, Rosina De Cario, Elena Sticchi, Gaia Spaziani, Matteo Della Monica, Sabrina Giglio, Silvia Favilli, Betti Giusti, Pierluigi Stefano, Guglielmina Pepe

Genes (Basel) 2021 Oct; 12(10): 1462. Published online 2021 Sep 22. doi: 10.3390/genes12101462

PMCID:: PMC8536070

Article PDF–1.9M

Select item 80498423.

Corneal thinning and cornea guttata in patients with mutations in TGFB2

Allen O. Eghrari, Marjohn M. Rasooly, Michael J. Fliotsos, Jessica Kinard, Obinna Odozor, Denise Cunningham, Rachel J. Bishop, Anthony L. Guerrerio, Pamela A. Frischmeyer-Guerrerio

Can J Ophthalmol. Author manuscript; available in PMC 2021 Aug 1.

Published in final edited form as: Can J Ophthalmol. 2020 Aug; 55(4): 336–341. Published online 2020 Apr 16. doi: 10.1016/j.jcjo.2020.03.007