Variant: rs1217566598 

    present in Gene: PCNT
    present in Chromosome: 21
    Position on Chromosome: 46399707
    Alleles of this Variant: G/A;T

rs1217566598 in PCNT gene and Dysmorphic features PMID 22821869 2012 Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations.

PMID 20358609 2010 Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype.

PMID 21270239 2011 Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes.

PMID 21567919 2011 The smallest teeth in the world are caused by mutations in the PCNT gene.

PMID 19839044 2009 Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene.

PMID 19643772 2010 Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.

PMID 24106199 2014 Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis.