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A novel mutation of the StAR gene with congenital adrenal hyperplasia and its association with heterochromia iridis: a case report

BACKGROUND: We report a novel mutation within the StAR gene, causing congenital adrenal hyperplasia, with the so far unreported association with heterochromia iridis. CASE PRESENTATION: In a now 15-year-old girl (born at 41 + 6 weeks of gestation) adrenal failure was diagnosed in the neonatal period...

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Detalles Bibliográficos
Autores principales:	Splittstösser, Vera, Schreiner, Felix, Gohlke, Bettina, Welzel, Maik, Holterhus, Paul-Martin, Woelfle, Joachim
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6821031/ https://www.ncbi.nlm.nih.gov/pubmed/31666050 http://dx.doi.org/10.1186/s12902-019-0448-2

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