Associated Papers
FBLN5-Related Cutis Laxa Syndrome: A Case with a Novel Variant and Review of the Literature.
Tekmenuray-Unal A et al.
Molecular Syndromology, 2023
Demyelinating Charcot-Marie-Tooth neuropathy associated with FBLN5 mutations.
Safka Brozkova D et al.
European Journal of Neurology, 2020
Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation.
Kantaputra PN et al.
American Journal of Medical Genetics. Part A, 2014
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