A dominantly inherited malformation syndrome with short stature, upper limb anomaly, minor craniofacial anomalies, and absence of TBX5 mutations: Report of a Thai family
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...
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Main Authors: | Kantaputra P.N., Yamasaki K., Ishida T., Kishino T., Niikawa N. |
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Format: | Article |
Language: | English |
Published: |
2014
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Online Access: | 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 |
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Institution: | Chiang Mai University |
Language: | English |
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