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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Detalles Bibliográficos
Autores principales: Majid, Aziz, Talat, Khan, Colin, Lumsden, Caroline, Ross, Helen, Kingston, Christian, De Goede
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3611909/
https://www.ncbi.nlm.nih.gov/pubmed/23560007
http://dx.doi.org/10.4103/1817-1745.106478

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3611909/
https://www.ncbi.nlm.nih.gov/pubmed/23560007
http://dx.doi.org/10.4103/1817-1745.106478

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