Associated Papers
Brittle Cornea Syndrome: Molecular Diagnosis and Management.
Zeppieri M et al.
Diagnostics (basel, Switzerland), 2025
A case of massive hematoma: reflections on hypermobile Ehlers-Danlos syndrome.
Liu Q et al.
Frontiers in Medicine, 2025
Penetrating keratoplasty in brittle Cornea syndrome: Case series and review of the literature.
Incandela C et al.
European Journal of Ophthalmology, 2024
Hypermobile Ehlers-Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes.
Gensemer C et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2021
Identification of Mutations in the PRDM5 Gene in Brittle Cornea Syndrome.
Micheal S et al.
Cornea, 2016
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.
Burkitt Wright EMM et al.
American Journal of Human Genetics, 2011
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