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Genotype-Phenotype Correlations, Treatment, and Prognosis of Children With Early-Onset (Neonatal) Marfan Syndrome. [PDF]

open access: yesClin Genet
van der Leest EC   +12 more
europepmc   +1 more source
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Marfan syndrome

Journal of the American Academy of Nurse Practitioners, 2009
AbstractPurpose: To provide an overview of Marfan syndrome (MFS), including diagnostic criteria, genetic factors involved, emerging theories for treatment, a case study, and an overview of genetic counseling for individuals and families of those with MFS.Data Sources: Selected research, review, and clinical articles.Conclusions: MFS is a connective ...
Eric D, Shirley, Paul D, Sponseller
openaire   +4 more sources

Marfan syndrome

Nature Reviews Disease Primers, 2021
Marfan syndrome (MFS) is an autosomal dominant, age-related but highly penetrant condition with substantial intrafamilial and interfamilial variability. MFS is caused by pathogenetic variants in FBN1, which encodes fibrillin-1, a major structural component of the extracellular matrix that provides support to connective tissues, particularly in arteries,
Dianna M. Milewicz   +8 more
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Marfan's syndrome

Annals of Emergency Medicine, 1980
Asfaw I, Tintinalli JE: Marfan's syndrome. Ann Emerg Med 9:105-107, February 1 980. Marfan's syndrome; syndrome, Marfan's; aortic insufficiency, Marfan's syndro me I NTRODUCTION Judith Tintinalli, MD: The case for discussion today is that of a young woman with Marfan's syndrome and chest pain.
Ingida Asfaw, Judith E. Tintinalli
openaire   +2 more sources

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