Congenital disorder of glycosylation type IIc

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Congenital disorder of glycosylation type IIc
Other namesRambam-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

  1. ^ Etzioni A, Harlan JM (2007). "Cell adhesion and leukocyte adhesion defects". In Ochs HD, Smith CI, Puck JM (eds.). Primary immunodeficiency diseases: a molecular and genetic approach. Oxford University Press. pp. 550–564.
  2. PMID 18541720
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External links