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Step-by-Step Double-Trouble OBAIRH and DMD Diagnosis in a One-Year-Old Boy

We present a case of a combination of two rare hereditary disorders: obesity, adrenal insufficiency and red hair syndrome (OBAIRH) and Duchenne muscular dystrophy (DMD) in a boy. Both diseases were diagnosed during the first year of life. OBAIRH was suggested based on the ethnicity and family histor...

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Detalles Bibliográficos
Autores principales: Shchagina, Olga, Kurilova, Vera, Zinina, Elena, Porubov, Vyacheslav, Efishova, Svetlana, Polyakov, Aleksander
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10418305/
https://www.ncbi.nlm.nih.gov/pubmed/37569734
http://dx.doi.org/10.3390/ijms241512357