Frederick Venter Andrew Evans Claudia Fontes Carol Stewart
10.1177/2324709618820660
J Investig Med High Impact Case Rep
2019 Jan-Dec;7:2324709618820660.
cobb’s angle coffin-lowry kyphoscoliosis mental retardation restrictive lung disease
CC BY
https://pubmed.ncbi.nlm.nih.gov/30791716/
Coffin-Lowry Syndrome / complications Lung Diseases / complications Paraplegia / complications Scoliosis / complications
Coffin-Lowry Syndrome / complications Lung Diseases / complications Paraplegia / complications Scoliosis / complications Case Reports Abnormalities, Multiple / genetics Adult Coffin-Lowry Syndrome / genetics Humans Lung Diseases / diagnostic imaging Lung Diseases / genetics Male Paraplegia / genetics Phenotype Radiography, Thoracic Ribosomal Protein S6 Kinases, 90-kDa / genetics Scoliosis / diagnostic imaging Scoliosis / genetics Tomography, X-Ray Computed Ribosomal Protein S6 Kinases, 90-kDa ribosomal protein S6 kinase, 90kDa, polypeptide 3
PMC6350156
30791716
Severe Restrictive Lung Disease in One of the Oldest Documented Males With Coffin-Lowry Syndrome
2019