Genetic Screening in a Large Chinese Cohort of Childhood Onset Hypoparathyroidism by Next-Generation Sequencing Combined with TBX1-MLPA.

Wang, Yabing

Genetic Screening in a Large Chinese Cohort of Childhood Onset Hypoparathyroidism by Next-Generation Sequencing Combined with TBX1-MLPA. [electronic resource] - Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 12 2019 - 2254-2263 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1523-4681

10.1002/jbmr.3854 doi


Adolescent
Age of Onset
Asian People--genetics
Child
Child, Preschool
Cohort Studies
DNA Mutational Analysis
Genetic Testing
High-Throughput Nucleotide Sequencing
Humans
Hypoparathyroidism--genetics
Infant
Infant, Newborn
Multiplex Polymerase Chain Reaction
Mutation--genetics
Phenotype
T-Box Domain Proteins--genetics