Condition: MECKEL SYNDROME, TYPE 6 (disorder)
rs386833752 in
CC2D2A gene and
MECKEL SYNDROME, TYPE 6 (disorder)
PMID 19466712 2009 Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
PMID 24706459 2014 First-trimester diagnosis of Meckel-Gruber syndrome by fetal ultrasound with molecular identification of CC2D2A mutations by next-generation sequencing.
PMID 18513680 2008 Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.
PMID 21368913 2011 Clinical utility gene card for: Meckel syndrome.