A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome
Al-Awadi/Raas-Rothschild/Schinzel phocomelia (AARRS) syndrome, a rare autosomal recessive disorder, comprises malformations of upper and lower limbs with severely hypoplastic pelvis and abnormal genitalia. Mutations in WNT7A have been reported as cause of the syndrome. We report on two sisters in a...
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| Main Authors: | , , |
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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-s2.0-78049320449&partnerID=40&md5=91efbcf2bd8edf877023bc0bd1f6e7fb http://www.ncbi.nlm.nih.gov/pubmed/20949531 http://cmuir.cmu.ac.th/handle/6653943832/1035 |
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| Institution: | Chiang Mai University |
| Language: | English |