Sukanya Gayan

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BACKGROUND 677C to T allele in the 5, 10-methylenetetrahydrofolate reductase (MTHFR) gene has been implicated in the etiology of various syndromes and nonsyndromic diseases but till date no direct studies have been reported with craniosynostosis. OBJECTIVES The aim was to study the family-based association of MTHFR polymorphism in different categories of(More)
OBJECTIVE The Objective of this study was to identify the association of mutation of fibroblast growth factor receptor 1 (FGFR1), FGFR2 genes with syndromic as well as non-syndromic craniosynostosis in Indian population. MATERIALS AND METHODS Retrospective analysis of our records from January 2008 to December 2012 was done. A total of 41 cases satisfying(More)
Background Congenital adrenal hyperplasia (CAH) or 46, XX DSD is a result of a defect in the P450 adrenal enzymes responsible for the conversion of progesterones to glucocorticoids and mineralocorticoids. This syndrome affects both males and females but causes ambiguous genitalia only in females. Mutations in the CYP21 cause 90% of cases of CAH. The(More)
Background Bladder exstrophy is a congenital anomaly in which part of the urinary bladder is present outside the body. It is rare in occurrence but the frequency is increasing very rapidly. 5, 10-methyltetrahydrofolate reductase (MTHFR) enzyme, which catalyzes the synthesis of 5-methylenetetrahydrofolate and C677T polymorphism in MTHFR, shows a significant(More)
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