Severe hypocalcemia due to a de novo mutation in the fifth transmembrane domain of the calcium-sensing receptor.
Mora
Stefano
S
Zamproni
Ilaria
I
Proverbio
Maria Carla
MC
Bozzetti
Valentina
V
Chiumello
Giuseppe
G
Weber
Giovanna
G
D004252:DNA Mutational Analysis; D006579:Heterozygote; D006801:Humans; D006996:Hypocalcemia / Q000097:blood / Q000235:genetics* / Q000473:pathology; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D010281:Parathyroid Hormone / Q000097:blood; D010641:Phenotype; D044169:Receptors, Calcium-Sensing / Q000235:genetics*
D010281:Parathyroid Hormone; D044169:Receptors, Calcium-Sensing