Portuguese case of Smith-McCort syndrome caused by a new mutation in the Dymeclin (FLJ20071) gene.
Santos
Heloísa Gonçalves
HG
GenoMed, Institute of Molecular Medicine, Lisbon Funchal Hospital Center, Madeira, Portugal.
Fernandes
Helena C
HC
Nunes
José L
JL
Almeida
Maria R
MR
D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D009154:Mutation; D011174:Portugal; D011506:Proteins / Q000235:genetics*; D013577:Syndrome
C477370:DYM protein, human; D047908:Intracellular Signaling Peptides and Proteins; D011506:Proteins