Atypical comorbidities in a child considered to have type 1 diabetes led to the diagnosis of SLC29A3 spectrum disorder

INTRODUCTION: SLC29A3 spectrum disorder is an autosomal, recessively inherited, autoinflammatory, multisystem disorder characterized by distinctive cutaneous features, including hyperpigmentation or hypertrichosis, hepatosplenomegaly, hearing loss, cardiac anomalies, hypogonadism, short stature, and...

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Detalles Bibliográficos
Autores principales: Besci, Özge, Patel, Kashyap Amratlal, Yıldız, Gizem, Tüfekçi, Özlem, Acinikli, Kübra Yüksek, Erbaş, İbrahim Mert, Abacı, Ayhan, Böber, Ece, Bayram, Meral Torun, Yılmaz, Şebnem, Demir, Korcan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7613593/
https://www.ncbi.nlm.nih.gov/pubmed/35284993
http://dx.doi.org/10.1007/s42000-022-00352-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7613593/
https://www.ncbi.nlm.nih.gov/pubmed/35284993
http://dx.doi.org/10.1007/s42000-022-00352-3

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