Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother
SUMMARY Mutations in the insulin receptor (INSR) gene may present with variable clinical phenotypes. We report herein a novel heterozygous INSR mutation in an adolescent girl with type A insulin resistance syndrome and her mother. The index case was a 12-year-old girl without obesity who presented w...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Brazilian Society of Endocrinology and Metabolism
2024-02-01
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| Series: | Archives of Endocrinology and Metabolism |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972024000101604&lng=en&tlng=en |