Normal pituitary function in a Japanese patient with Barth syndrome

Functional Noncoding Variants in a TTTG Microsatellite on Chromosome 15q26.1 Are a Common Genetic Etiology of Congenital Hypothyroidism with Thyroid Gland in situ.

Hormone research in paediatrics·2025

Effects of enzyme replacement therapy in sibling cases of hypophosphatasia of varying severities.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology·2025

Solitary median maxillary central incisor syndrome caused by 22q11.2 microdeletion.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology·2025

Questionnaire survey on severe hypoglycemia in pediatric patients with diabetes-English version.

Diabetology international·2024

CHARGE syndrome in a child with a CHD7 variant and a novel pathogenic SOX2 variant: A case report.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology·2024