A dominantly inherited malformation syndrome with short stature, upper limb anomaly, minor craniofacial anomalies, and absence of TBX5 mutations: Report of a Thai family

• Main Authors: Kantaputra P.N., Yamasaki K., Ishida T., Kishino T., Niikawa N.
• 格式: Article
• 語言: English
• 出版: 2014
• 在線閱讀: http://www.scopus.com/inward/record.url?eid=2-s2.0-0037101858&partnerID=40&md5=b1f3493052b0d1db752f37353ad40b6d; http://www.ncbi.nlm.nih.gov/pubmed/12210327; http://cmuir.cmu.ac.th/handle/6653943832/1030

We report on a Thai family with dominantly inherited malformation syndrome with upper limb anomalies, short stature, quadricuspid aortic valve, and minor craniofacial anomalies. The affected individuals comprised a mildly affected mother, a moderately affected daughter, and a most severely affected...