Article
Prenatal diagnosis of Rambam-Hasharon syndrome.
Prenatal diagnosis - 1 Mar 1996
Frydman M, Vardimon D, Shalev E, Orlin J B
Abstract excerpt
Rambam-Hasharon syndrome (RHS) is a newly recognized autosomal recessive inborn error in fucose metabolism. Mental retardation, short stature, coarse facies, and recurrent infections are the main clinical findings. Several fucosilated proteoglycans are deficient in these patients. Leukocyte adhesion deficiency type 2 is associated with lack of the membrane glycoprotein sialyl-Lewisx (CD15s). In the red blood...
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