1 results match your criteria: "The NetherlandsDepartment of PediatricsOregon Health and Science University[Affiliation]"
STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritability.
Eur J Endocrinol
September 2015
Unidade de Endocrinologia GeneticaLaboratorio de Endocrinologia Celular e Molecular LIM/25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Avenida Dr Arnaldo, 455 5° Andar Sala 5340, 01246-903 Sao Paulo, Sao Paulo, BrazilDivision of EndocrinologyCincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USACentro de Investigaciones Endocrinológicas 'Dr César Bergadá' (CEDIE)CONICET - FEI - División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, C1425EFD Buenos Aires, ArgentinaEndocrine ServiceHospital de Pediatria Garrahan, Ciudad Autonoma de Buenos Aires Pozos 1881, 1245 Buenos Aires, ArgentinaDivision of EndocrinologyDepartment of Medicine, Leiden University Medical Center, 2300 RC Leiden, The NetherlandsUniversidade do Extremo Sul Catarinense88806-000 Criciúma, Santa Catarina, BrazilDepartment of PediatricsLeiden University Medical Center, 2300 RC Leiden, The NetherlandsDepartment of PediatricsOregon Health and Science University, Portland, Oregon 97239, USA
Context And Objective: GH insensitivity with immune dysfunction caused by STAT5B mutations is an autosomal recessive condition. Heterozygous mutations in other genes involved in growth regulation were previously associated with a mild height reduction. Our objective was to assess for the first time the phenotype of heterozygous STAT5B mutations.
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