Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation
We report on a 4-year-old girl with autosomal recessive cutis laxa, type IA, or pulmonary emphysema type (ARCL1A; OMIM #219100), with loose and wrinkled skin, mitral and tricuspid valve prolapse, conjunctivochalasis, obstructed nasolacrimal ducts, hypoplastic maxilla, and early childhood-onset pulmo...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley-Liss Inc.
2014
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| Online Access: | http://www.scopus.com/inward/record.url?eid=2-s2.0-84905837090&partnerID=40&md5=c93478fbfca80ee3bb9abaf122d8d54d http://cmuir.cmu.ac.th/handle/6653943832/37573 |
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| Institution: | Chiang Mai University |
| Language: | English |