Associated Papers
Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature.
Baldo F et al.
Italian Journal of Pediatrics, 2022
Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.
Valenzuela I et al.
European Journal of Medical Genetics, 2017
Genotype-phenotype analysis of F-helix mutations at the kinase domain of TGFBR2, including a type 2 Marfan syndrome familial study.
Zhang L et al.
Molecular Vision, 2012
Mutations of the TGFBR2 gene in Chinese patients with Marfan-related syndrome.
Chen J et al.
Clinical and Investigative Medicine. Medecine Clinique Et Experimentale, 2010
Importance of the clinical recognition of Loeys-Dietz syndrome in the neonatal period.
Yetman AT et al.
Pediatrics, 2007
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