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Maria G. Obregon

B, AR

Maria Obregon is in Argentina. Dr. Obregon is highly rated in 10 conditions, according to our data. Her top areas of expertise are Rommen Mueller Sybert Syndrome, Hypochondroplasia, Noonan Syndrome, and Coloboma of Iris.

Her clinical research consists of co-authoring 27 peer reviewed articles in the past 15 years.

Publications

  • Journal: Frontiers in genetics
  • Published —
Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients.
  • Journal: Molecular genetics and metabolism reports
  • Published —
Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients.
  • Journal: American journal of medical genetics. Part A
  • Published —
Noonan syndrome with loose anagen hair with variants in the PPP1CB gene: First familial case reported.
  • Journal: The Journal of clinical endocrinology and metabolism
  • Published —
Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia.
  • Journal: American journal of medical genetics. Part A
  • Published —
Rubinstein-Taybi syndrome in diverse populations.
  • Journal: European journal of medical genetics
  • Published —
Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants.
  • Journal: American journal of medical genetics. Part A
  • Published —
Turner syndrome in diverse populations.
  • Journal: American journal of medical genetics. Part A
  • Published —
Providing more evidence on LZTR1 variants in Noonan syndrome patients.
  • Journal: Journal of pediatric genetics
  • Published —
SHOX Deficiency in Argentinean Cohort: Long-Term Auxological Follow-Up and a Family's New Mutation.
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