Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.
Limongelli
Giuseppe
G
Department of Cardiology, Monaldi Hospital, Second University of Naples, Naples, Italy. limongelligiuseppe@libero.it
Russo
Silvia
S
Digilio
Maria Cristina
MC
Masciadri
Maura
M
Pacileo
Giuseppe
G
Fratta
Fiorella
F
Martone
Francesca
F
Maddaloni
Valeria
V
D'Alessandro
Raffaella
R
Calabro
Paolo
P
Russo
Maria Giovanna
MG
Calabro
Raffaele
R
Larizza
Lidia
L
D000595:Amino Acid Sequence; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D018797:Cell Cycle Proteins / Q000235:genetics*; D002648:Child; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics*; D003635:De Lange Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D000098550:Structural Maintenance of Chromosome Protein 1
D018797:Cell Cycle Proteins; D002868:Chromosomal Proteins, Non-Histone; D000098550:Structural Maintenance of Chromosome Protein 1