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Autor:
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
Publikováno v:
Genetic counseling (Geneva, Switzerland). 27(3)
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