Associated Papers
Endoplasmic reticulum stress and muscle dysfunction in congenital lipodystrophies.
Araújo de Melo Campos JT et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021
Exome sequencing reveals a novel WDR45 frameshift mutation and inherited POLR3A heterozygous variants in a female with a complex phenotype and mixed brain MRI findings.
Khalifa M et al.
European Journal of Medical Genetics, 2015
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.
Marangi G et al.
American Journal of Medical Genetics. Part A, 2011
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