Variant: rs606231193 

    present in Gene: PQBP1
    present in Chromosome: X
    Position on Chromosome: 48902391
    Alleles of this Variant: AGAG/-;AG;AGAGAG

rs606231193 in PQBP1 gene and Dysmorphic features PMID 20950397 2011 The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.

PMID 16740914 2006 Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene.

PMID 15782410 2005 Renpenning syndrome comes into focus.

PMID 13981686 1962 Familial sex-linked mental retardation.

PMID 15355434 2004 Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1).

PMID 14634649 2003 Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.

rs606231193 in PQBP1 gene and Renpenning syndrome 1 PMID 14634649 2003 Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.

PMID 7943045 1994 Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: a new X-linked multiple congenital anomalies/mental retardation syndrome: clinical description and molecular studies.

PMID 15024694 2004 Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.

PMID 17033686 2007 A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.