The Youngest Infant to Be Diagnosed with Autosomal Dominant Hypocalcemia Type 2 Harboring a Novel Variant of

Autor:	Eun-Jung, Kwon, Min-Sun, Kim, Eu-Seon, Noh, Chi-Woo, Kim, Jahyun, Jang, Jin-Ho, Choi, Sung Yoon, Cho, Dong-Kyu, Jin
Rok vydání:	2022
Předmět:	Hypocalcemia GTP-Binding Proteins Hypoparathyroidism Hypercalciuria Humans Infant GTP-Binding Protein alpha Subunits
Zdroj:	Annals of clinical and laboratory science. 52(3)
ISSN:	1550-8080
Popis:	Autosomal dominant hypocalcemia (ADH) is characterized by hypocalcemia and inappropriately low PTH concentrations. ADH type 2 (ADH2) is caused by a heterozygous gain-of-function mutation in
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::2277734343d9fc56447fb21e5cdf02d9 https://pubmed.ncbi.nlm.nih.gov/35777808 Zobrazit plný text záznamu