Germline mosaicism for the c.2021G > A (p.Arg674Gln) mutation in siblings with trismus pseudocamptodactyly.
Bonapace
Giuseppe
G
Faculty of Medicine, Department of Pediatrics, University Magna Graecia Catanzaro, Catanzaro, Italy.
Ceravolo
Ferdinando
F
Piccirillo
Alessandro
A
Duro
Giovanni
G
Strisciuglio
Pietro
P
Concolino
Daniela
D
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics*; D001176:Arthrogryposis / Q000235:genetics; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009030:Mosaicism; D018995:Myosin Heavy Chains / Q000235:genetics; D010375:Pedigree; D035781:Siblings; D014313:Trismus / Q000235:genetics; D055815:Young Adult
C488292:MYH8 protein, human; D018995:Myosin Heavy Chains