Condition: Encephalocraniocutaneous lipomatosis
rs869320694 in
FGFR1 gene and
Encephalocraniocutaneous lipomatosis
PMID 19224897 2009 The precise sequence of FGF receptor autophosphorylation is kinetically driven and is disrupted by oncogenic mutations.
PMID 26942290 2016 Using exome sequencing of DNA from multiple affected tissues from five unrelated individuals with ECCL, we identified two mosaic mutations, c.1638C>A (p.Asn546Lys) and c.1966A>G (p.Lys656Glu) within the tyrosine kinase domain of FGFR1, in two affected individuals each.