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Severe Restrictive Lung Disease in One of the Oldest Documented Males With Coffin-Lowry Syndrome
Coffin-Lowry syndrome is expressed as different phenotypes in males and females. In males, it is characterized by facial abnormalities, marked developmental disability, and skeletal changes. Approximately 80% of cases are associated with kyphoscoliosis, which can be quite severe, as seen in our pati...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
SAGE Publications
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6350156/ https://www.ncbi.nlm.nih.gov/pubmed/30791716 http://dx.doi.org/10.1177/2324709618820660 |