PRENATAL DIAGNOSIS OF RAMBAMβHASHARON SY
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MOSHE FRYDMAN; DAVID VARDIMON; ELIEZER SHALEV; JEROME B. ORLIN
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Article
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1996
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John Wiley and Sons
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English
β 341 KB
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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