Fanny M. Cortes
Santiago, RM, Chile
Last Updated: 09/26/2026
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Found 8 publications
Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications.
Journal: Human mutation
Published: June 05, 2020
Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades.
Journal: American journal of medical genetics. Part A
Published: December 26, 2019
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Journal: Human mutation
Published: May 31, 2019
Observations from a nationwide vigilance program in medical care for spinal muscular atrophy patients in Chile.
Journal: Arquivos de neuro-psiquiatria
Published: February 01, 2019
Collagen VI related myopathies. When to suspect, how to identify. The contribution of muscle magnetic resonance
Journal: Revista chilena de pediatria
Published: December 27, 2017
Congenital anomalies of poor prognosis. Genetics Consensus Committee
Journal: Revista chilena de pediatria
Published: April 18, 2016
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Journal: Human mutation
Published: March 20, 2015
Showing 1-8 of 8
Last Updated: 09/26/2026