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PubMed (cited) for id: 300280
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Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death.
Circ Cardiovasc Genet. 2016 Apr;9(2):130-5. doi: 10.1161/CIRCGENETICS.115.001193. Epub 2016 Mar 1.
Circ Cardiovasc Genet. 2016.
PMID: 26933038
Free PMC article.
Uruguay facio-cardio-musculo-skeletal syndrome: a novel X-linked recessive disorder.
Quadrelli R, Vaglio A, Reyno S, Lemes A, Salazar D, Lachman RS, Wilcox WR.
Quadrelli R, et al.
Am J Med Genet. 2000 Nov 27;95(3):247-65. doi: 10.1002/1096-8628(20001127)95:3<247::aid-ajmg12>3.0.co;2-2.
Am J Med Genet. 2000.
PMID: 11102932
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