title: A novel mutation in the calcium sensing receptor gene in a neonate with severe hyperparathyroidism. .
authors.forename: D
authors.initials: D
authors.lastname: Kahvecioglu
authors.forename: B
authors.initials: B
authors.lastname: Atasay
authors.forename: M
authors.initials: M
authors.lastname: Berberoglu
authors.forename: D
authors.initials: D
authors.lastname: Yildiz
authors.forename: U
authors.initials: U
authors.lastname: Cakir
authors.forename: H
authors.initials: H
authors.lastname: Akduman
authors.forename: O
authors.initials: O
authors.lastname: Erdeve
authors.forename: Z
authors.initials: Z
authors.lastname: Siklar
authors.forename: C
authors.initials: C
authors.lastname: Magdelaine
authors.forename: A
authors.initials: A
authors.lastname: Lienhardt-Roussie
authors.forename: M
authors.initials: M
authors.lastname: Akar
authors.forename: M N
authors.initials: MN
authors.lastname: Ozbek
authors.forename: S
authors.initials: S
authors.lastname: Arsan
mesh_terms: D002118:Calcium / Q000097:blood; D002869:Chromosome Aberrations; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005799:Genes, Dominant / Q000235:genetics; D006580:Genetic Carrier Screening; D006720:Homozygote; D006801:Humans; D049950:Hyperparathyroidism, Primary / Q000175:diagnosis / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D010281:Parathyroid Hormone / Q000097:blood; D017354:Point Mutation / Q000235:genetics; D044169:Receptors, Calcium-Sensing / Q000235:genetics*
chemical_list: D010281:Parathyroid Hormone; D044169:Receptors, Calcium-Sensing; D002118:Calcium