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Article

Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disability.

Journal of human genetics - 1 Sept 2020

Knapp Karen M, Luu Rebecca, Baerenfaenger Melissa, Zijlstra Fokje, Wessels Hans J C T, Jenkins Danielle, Lefeber Dirk J, Neas Katherine, Bicknell Louise S

Abstract excerpt

Variants in SLC35C1 underlie leucocyte adhesion deficiency (LADII) or congenital disorder of glycosylation type 2c (CDGIIc), an autosomal recessive disorder of fucosylation. This immunodeficiency syndrome is generally characterized by severe recurrent infections, Bombay blood group, reduced growth and intellectual disability (ID). Features are all caused by an inability to generate key fucosylated molecules due...

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PMID: 32313197
DOI: 10.1038/s10038-020-0764-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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