article_metadata: Tsutomu Ogata Tetsuya Niihori Noriko Tanaka Masahiko Kawai Takeshi Nagashima Ryo Funayama Keiko Nakayama Shinichi Nakashima Fumiko Kato Maki Fukami Yoko Aoki Yoichi Matsubara
article_metadata: 10.1371/journal.pone.0091598
article_metadata: PLoS One
article_metadata: 2014 Mar 17;9(3):e91598.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/24637876/
article_metadata: DiGeorge Syndrome / genetics DiGeorge Syndrome / metabolism Exome Hypocalcemia / genetics Hypocalcemia / metabolism Mutation Phenotype T-Box Domain Proteins / genetics
article_metadata: 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
article_metadata: PMC3956758
article_metadata: 24637876
article_metadata: TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia
article_metadata: 2014