Ann Pediatr Endocrinol Metab.  2023 Dec;28(Suppl 1):S17-S19. 10.6065/apem.2244106.053.

A case of type A insulin resistance syndrome in a 14-year-old adolescent girl without common clinical features

• Lee N
• Jeong JE
• Kim YH
• Ki CS
• Kim JK

• KMID: 2549333
• DOI: http://doi.org/10.6065/apem.2244106.053

Figure

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  Fig. 1. Sequencing results for a mutation in the INSR gene of the patient and her parents. A heterozygous G to A transition at nucleotide 3602 of the INSR gene (c.3602G>A) resulting in a missense replacement of arginine with glutamine at amino acid 1201 (p.Arg1201Gln) was identified in the proband and mother but not in her father.

Reference

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