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Summary
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (MODY9)
MODY9
612225
OMIM = Online Medalian Inheritance of Men
552
7q32.1

mutation in the PAX4 gene

under construction
symptoms
diabetes mellitus
laboratory finding
Literature
Clark JF,Cecil KMDiagnostic methods and recommendations for the cerebral creatine deficiency syndromesPediatr Res773398-4052015
Hanna-El-Daher L,et al.Mild guanidinoacetate increase under partial guanidinoacetate methyltransferase deficiency strongly affects brain cell developmentNeurobiol Dis79014-272015
Mercimek-Mahmutoglu S,Salomons GS, Chan ACase study for the evaluation of current treatment recommendations of guanidinoacetate methyltransferase deficiency: ineffectiveness of sodium benzoatePediatr Neurol511133-1372014