Background: Mutations in NF1 gene could cause allelic disorders with clinical spectrum of Neurofibromatosis type 1 to Noonan syndrome. Here, a 7-year-old Iranian girl is described with Neurofibromatosis-Noonan syndrome due to a pathogenic variant in NF1 gene.
Methods: Clinical evaluations were performed along with genetic testing using whole exome sequencing (WES).
Background: Diabetes mellitus is one of the most common chronic metabolic diseases in children and adolescents, which changes the cellular metabolism. Phosphorus is an essential element for metabolism. Early in the progression of diabetes, a paradoxical metabolic imbalance in inorganic phosphate (Pi) occurs that may lead to reduced high energy phosphate and tissue hypoxia.
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