Condition: SMITH-MCCORT DYSPLASIA 1
rs120074164 in
DYM gene and
SMITH-MCCORT DYSPLASIA 1
PMID 19005420 2009 Portuguese case of Smith-McCort syndrome caused by a new mutation in the Dymeclin (FLJ20071) gene.
PMID 18996921 2009 The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus.
PMID 12491225 2003 Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.