S Ismail, M Essawi, N Sedky, H Hassan, A Fayez, N Helmy, M Shehab, D Farouk, M Elruby, G Otaify, A Eldarsh, L Hosny, K Gaber, E H A Aboul-Ezz, M I Ramzy, M I Mehrez, N F Hassib, S M A Elhadidi, M S Aglan, S A Temtamy
The Roberts syndrome (RBS) is a rare autosomal recessive disorder caused by mutation in ESCO2 gene. Among over 150 reported international cases, 16 cases are Egyptian including the presently reported patients. The current study reports 8 new Egyptian patients from 7 unrelated consanguineous families investigating clinical phenotype as well as cytogenetic changes in all cases and mutational spectrum in 4 cases. Clinical, orodental, cytogenetic and molecular studies were done to investigate genotype/phenotype correlation...
2016: Genetic Counseling