Congenital disorder of glycosylation type IIc
Congenital disorder of glycosylation type IIc | |
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Other names | Rambam-Hasharon syndrome, CDG-IIc, CDG2C |
This condition ia inherited via autosomal recessive manner |
Congenital disorder of glycosylation type IIc or Leukocyte adhesion deficiency-2 (LAD2) is a type of
SLC35C1.[2]
This disorder was discovered in two unrelated Israeli boys 3 and 5 years of age, each the offspring of consanguineous parents. Both had
GDP-fucose transporter deficiency is a cause of LAD2.[4]
See also
References
External links