A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome
作者： Mohammad Al-Qattan , Hussam Abou Al-Shaar
DOI: 10.15537/SMJ.2015.8.11891
关键词:
摘要: We report on a Saudi infant with Holt-Oram syndrome caused by de novo missense mutation of the TBX5 gene. The (Thr72Lys) is novel and has not been previously reported. cardiac limb defects in our patient were both severe, also had micrognathia cleft palate. Previously reported cases mutations reviewed their phenotypes compared phenotype patient.
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