Holt-Oram syndrome with right lung agenesis caused by a de novo mutation in the TBX5 gene.
Tseng
Yu-Ru
YR
Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan, ROC.
Su
Yi-Ning
YN
Lu
Frank Leigh
FL
Jeng
Suh-Fang
SF
Hsieh
Wu-Shiun
WS
Chen
Chien-Yi
CY
Chou
Hung-Chieh
HC
Peng
Steven Shinn-Forng
SS
D000015:Abnormalities, Multiple / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities*; D008297:Male; D009154:Mutation; D012127:Respiratory Distress Syndrome, Newborn / Q000235:genetics; D013577:Syndrome; D020825:T-Box Domain Proteins / Q000235:genetics*
D020825:T-Box Domain Proteins; C103172:T-box transcription factor 5