Nature

Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon

Menkes disease (MD; OMIM#309400) and occipital horn syndrome (OHS; OMIM#304150) are allelic, X-linked recessive disorders of impaired copper metabolism due to mutations in the ATP7A gene. The patients ...
Nature

Aberrant cortisol metabolism might cause alcoholic pseudo-Cushing syndrome

In vivo, type 1 11β-hydroxysteroid dehydrogenase converts inactive cortisone to active cortisol, primarily in the liver, whereas the type 2 isoenzyme catalyzes the reverse process, mainly in the ...
ascopubs.org

Pseudo Meigs' Syndrome Secondary to Colorectal Adenocarcinoma Metastasis to the Ovaries

Twenty-One–Gene Assay: Challenges and Promises in Translating Personal Genomics and Whole-Genome Scans Into Personalized Treatment of Breast Cancer ...