Gabriella Morreale de Escobar (1930–2017)
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Endocrinological Investigation"
DOI: 10.1007/s40618-018-0878-0
Abstract: Gabriella Morreale de Escobar passed away in Madrid on December 4, 2017. She was born in Milan, Italy in 1930 and received a cosmopolitan education, having attended schools in Austria and in US, before taking… read more here.
Keywords: escobar; endocrinology; gabriella morreale; morreale escobar ... See more keywords
Combining Gene Mutation with Expression of Candidate Genes to Improve Diagnosis of Escobar Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13101748
Abstract: Escobar syndrome is a rare, autosomal recessive disorder that affects the musculoskeletal system and the skin. Mutations in the CHRNG and TPM2 genes are associated with this pathology. In this study, we conducted a clinical… read more here.
Keywords: escobar; expression; escobar syndrome; mutation ... See more keywords