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Chromosome 22q11.2 Deletion Syndrome Presenting as Adult Onset Hypoparathyroidism: Clues to Diagnosis from Dysmorphic Facial Features

We report a 26-year-old Thai man who presented with hypoparathyroidism in adulthood. He had no history of cardiac disease and recurrent infection. His subtle dysmorphic facial features and mild intellectual impairment were suspected for chromosome 22q11.2 deletion syndrome. The diagnosis was confirm...

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Detalles Bibliográficos
Autores principales: Korpaisarn, Sira, Trachoo, Objoon, Sriphrapradang, Chutintorn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3657414/
https://www.ncbi.nlm.nih.gov/pubmed/23738156
http://dx.doi.org/10.1155/2013/802793

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