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COMPREHENSIVE CLINICAL AND MOLECULAR ANALYSIS OF 12 FAMILIES WITH TYPE 1 RECESSIVE CUTIS LAXA
Autosomal recessive cutis laxa type I (ARCL type I) is characterized by generalized cutis laxa with pulmonary emphysema and/or vascular complications. Rarely, mutations can be identified in FBLN4 or FBLN5. Recently, LTBP4 mutations have been implicated in a similar phenotype. Studying FBLN4, FBLN5 a...
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| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
2012
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4105850/ https://ncbi.nlm.nih.gov/pubmed/22829427 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22165 |
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