A novel case of homozygous PAX1 mutation associated with hypoparathyroidism.

Hamel, Benjamin L; Kumar, Seema; Heidenreich, Leah; Joshi, Avni; DaSilva, Christiana; Asumda, Faizal Z

Hamel, Benjamin L; Kumar, Seema; Heidenreich, Leah; Joshi, Avni; DaSilva, Christiana; Asumda, Faizal Z.

Afiliación

Hamel BL; Department of Pediatrics, Mayo Clinic, Rochester, MN, USA.
Kumar S; Department of Endocrinology, Mayo Clinic, Rochester, MN, USA.
Heidenreich L; Department of Pediatrics, Mayo Clinic, Rochester, MN, USA.
Joshi A; Department of Immunology, Mayo Clinic, Rochester, MN, USA.
DaSilva C; Department of Pediatrics, Sanford Children's Campus, Bismarck, ND, USA.
Asumda FZ; Department of Clinical Genetics and Genomics, Mayo Clinic, 200 First St SW, Rochester, MN 55905, USA.

Ther Adv Rare Dis ; 4: 26330040231158776, 2023.

Article en En | MEDLINE | ID: mdl-37197558

Palabras clave

PAX; PAX1; hypocalcemia; hypoparathyroidism

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Ther Adv Rare Dis Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google