Homozygous missense variant of <i>PTH</i> (c.166C>T, p.(Arg56Cys)) as the cause of familial isolated hypoparathyroidism in a three-year-old child.

Andersen, Stine Linding; Frederiksen, Anja Lisbeth; Rasmussen, Astrid Bruun; Madsen, Mette; Christensen, Ann-Margrethe Rønholt

Homozygous missense variant of PTH (c.166C>T, p.(Arg56Cys)) as the cause of familial isolated hypoparathyroidism in a three-year-old child.

Andersen, Stine Linding; Frederiksen, Anja Lisbeth; Rasmussen, Astrid Bruun; Madsen, Mette; Christensen, Ann-Margrethe Rønholt.

Afiliação

Andersen SL; Department of Clinical Biochemistry, Aalborg University Hospital , Aalborg, Denmark.
Frederiksen AL; Department of Clinical Medicine, Aalborg University , Aalborg, Denmark.
Rasmussen AB; Department of Clinical Medicine, Aalborg University , Aalborg, Denmark.
Madsen M; Department of Clinical Genetics, Aalborg University Hospital , Aalborg, Denmark.
Christensen AR; Department of Pediatrics, Aalborg University Hospital , Aalborg, Denmark.

J Pediatr Endocrinol Metab ; 35(5): 691-694, 2022 May 25.

Article em En | MEDLINE | ID: mdl-35120289

Assuntos

Hipocalcemia; Hipoparatireoidismo; Criança; Pré-Escolar; Homozigoto; Humanos; Hipocalcemia/genética; Hipoparatireoidismo/genética; Hormônio Paratireóideo

Palavras-chave

hypocalcemia; immunoassay; parathyroid hormone

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hipocalcemia / Hipoparatireoidismo Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Humans Idioma: En Revista: J Pediatr Endocrinol Metab Assunto da revista: ENDOCRINOLOGIA / PEDIATRIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Dinamarca País de publicação: Alemanha

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