Tsutomu Ogata Tetsuya Niihori Noriko Tanaka Masahiko Kawai Takeshi Nagashima Ryo Funayama Keiko Nakayama Shinichi Nakashima Fumiko Kato Maki Fukami Yoko Aoki Yoichi Matsubara
10.1371/journal.pone.0091598
PLoS One
2014 Mar 17;9(3):e91598.
CC BY
https://pubmed.ncbi.nlm.nih.gov/24637876/
DiGeorge Syndrome / genetics DiGeorge Syndrome / metabolism Exome Hypocalcemia / genetics Hypocalcemia / metabolism Mutation Phenotype T-Box Domain Proteins / genetics
DiGeorge Syndrome / genetics DiGeorge Syndrome / metabolism Exome Hypocalcemia / genetics Hypocalcemia / metabolism Mutation Phenotype T-Box Domain Proteins / genetics Case Reports Research Support, Non-U.S. Gov't Adolescent Adult Asian People / genetics Child Child, Preschool Comparative Genomic Hybridization DiGeorge Syndrome / diagnosis Female High-Throughput Nucleotide Sequencing Humans In Situ Hybridization, Fluorescence Infant Infant, Newborn Japan Male Pedigree Young Adult T-Box Domain Proteins TBX1 protein, human
PMC3956758
24637876
TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia
2014