Misa Honda
Shinjuku, 1608582, Japan
Last Updated: 09/26/2026
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Found 8 publications
Coproporphyrinogen Oxidase Deficiency Causes Primary Adrenal Insufficiency and 46,XY DSD.
Journal: The Journal of clinical endocrinology and metabolism
Published: January 13, 2025
Letter to the Editor regarding "Serum steroid metabolite profiling by LC-MS/MS in two phenotypic male patients with HSD17B3 deficiency: Implications for hormonal diagnosis".
Journal: The Journal of steroid biochemistry and molecular biology
Published: December 19, 2023
Parathyroid adenoma with a somatic CASR pathogenic variant: A pediatric case report.
Journal: Pediatric blood & cancer
Published: August 14, 2023
Potential benefits of rapid genetic testing for germline WT1 in infants with bilateral renal tumors: A case report.
Journal: Pediatric blood & cancer
Published: April 10, 2021
An infant with congenital nephrogenic diabetes insipidus presenting with hypercalcemia and hyperphosphatemia.
Journal: Endocrinology, diabetes & metabolism case reports
Published: November 13, 2020
Novel STAR gene variant in a patient with classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency.
Journal: Human genome variation
Published: October 22, 2020
A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome.
Journal: Human genome variation
Published: August 21, 2020
A 2.0 Mb microdeletion in proximal chromosome 14q12, involving regulatory elements of FOXG1, with the coding region of FOXG1 being unaffected, results in severe developmental delay, microcephaly, and hypoplasia of the corpus callosum.
Journal: European journal of medical genetics
Published: August 30, 2012
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Last Updated: 09/26/2026