Variant: rs1557099144 

    present in Gene: PHF8
    present in Chromosome: X
    Position on Chromosome: 53985131
    Alleles of this Variant: -/C

rs1557099144 in PHF8 gene and Dysmorphic features PMID 17661819 2007 Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate.

PMID 16199551 2005 Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.

PMID 18498374 2008 Autism-associated familial microdeletion of Xp11.22.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 19843542 2010 PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nepsilon-dimethyl lysine demethylase.

PMID 20622853 2010 Histone H4K20/H3K9 demethylase PHF8 regulates zebrafish brain and craniofacial development.

PMID 17594395 2007 A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate.

rs1557099144 in PHF8 gene and Multiple congenital anomalies PMID 17661819 2007 Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate.

PMID 18498374 2008 Autism-associated familial microdeletion of Xp11.22.

PMID 16199551 2005 Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.

PMID 17594395 2007 A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate.

PMID 19843542 2010 PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nepsilon-dimethyl lysine demethylase.

PMID 20622853 2010 Histone H4K20/H3K9 demethylase PHF8 regulates zebrafish brain and craniofacial development.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

rs1557099144 in PHF8 gene and Muscle hypotonia PMID 17594395 2007 A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate.

PMID 20622853 2010 Histone H4K20/H3K9 demethylase PHF8 regulates zebrafish brain and craniofacial development.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 19843542 2010 PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nepsilon-dimethyl lysine demethylase.

PMID 18498374 2008 Autism-associated familial microdeletion of Xp11.22.

PMID 17661819 2007 Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate.

PMID 16199551 2005 Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.