Dysmorphic Features, Frontal Cerebral Cavernoma, and Hyperglycemia in a Girl with a De Novo Deletion of 7.23 Mb in Region 7p13-p12.1

We describe the case of a 7-year-old girl referred to our diabetes unit for hyperglycemia associated with facial dysmorphic features, intellectual disability, and cerebral cavernomas. Based on presence of anti islet antigen-2 (IA2) antibodies and a human leukocyte antigen of DR3/DR4/DQ2, the patient...

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Detalles Bibliográficos
Autores principales: López, Gilberto Pérez, Quispe, Beatriz Villafuerte, Núñez, María José Cabrejas, Castaño, Luis, Barrio, Raquel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5785643/
https://www.ncbi.nlm.nih.gov/pubmed/28387648
http://dx.doi.org/10.4274/jcrpe.4324

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5785643/
https://www.ncbi.nlm.nih.gov/pubmed/28387648
http://dx.doi.org/10.4274/jcrpe.4324

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