Phenotypic Variations of Cartilage Hair Hypoplasia: Granulomatous Skin Inflammation and Severe T Cell Immunodeficiency as Initial Clinical Presentation in Otherwise Well Child with Short Stature

We report a child with short stature since birth who was otherwise well, presenting at 2.8 years with progressive granulomatous skin lesions when diagnosed with severe T cell immunodeficiency. When previously investigated for short stature, and at the time of current investigations, she had no radio...

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Detalles Bibliográficos
Autores principales: McCann, Liza J., McPartland, Jo, Barge, Dawn, Strain, Lisa, Bourn, David, Calonje, Eduardo, Verbov, Julian, Riordan, Andrew, Kokai, George, Bacon, Chris M., Wright, Michael, Abinun, Mario
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2013
Materias:
Astute Clinician Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7086599/
https://www.ncbi.nlm.nih.gov/pubmed/24217815
http://dx.doi.org/10.1007/s10875-013-9962-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7086599/
https://www.ncbi.nlm.nih.gov/pubmed/24217815
http://dx.doi.org/10.1007/s10875-013-9962-6

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