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Heterogeneity in spinal muscular atrophy with respiratory distress type 1
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a clinically heterogeneous disorder linked to mutations in the immunoglobulin mu-binding protein 2 (IGHMBP2) gene on chromosome 11q13-q21. Most infants with SMARD1 present between six weeks and six months of age with respiratory di...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Medknow Publications & Media Pvt Ltd
2012
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3611909/ https://ncbi.nlm.nih.gov/pubmed/23560007 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/1817-1745.106478 |
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