Misa Honda

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.

T. Hasegawa, Yoko Tanaka, M. Takagi, 2013, European journal of medical genetics.

Novel STAR gene variant in a patient with classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency

M. Shimabukuro, M. Higa, H. Masuzaki, 2021, Human genome variation.

A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome

M. Eguchi, H. Shibata, T. Hasegawa, 2020, Human Genome Variation.

A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome

M. Eguchi, H. Shibata, T. Hasegawa, 2020, Human genome variation.

An infant with congenital nephrogenic diabetes insipidus presenting with hypercalcemia and hyperphosphatemia

H. Shibata, S. Uchida, Takayasu Mori, 2021, Endocrinology, diabetes & metabolism case reports.