Condition: Lujan Fryns syndrome
rs80338759
in
MED12
gene and
Lujan Fryns syndrome
PMID 23519317
2013 Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
PMID 17369503
2007 The original
Lujan syndrome
family has a novel missense mutation (
p.N1007S
) in the MED12 gene.