Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion.
Boyadjiev
Simeon A
SA
Section of Genetics, Department of Pediatrics, University of California Davis Medical Center, Sacramento, CA, USA. simeon.boyd@ucdmc.ucdavis.edu
Kim
S-D
SD
Hata
A
A
Haldeman-Englert
C
C
Zackai
E H
EH
Naydenov
C
C
Hamamoto
S
S
Schekman
R W
RW
Kim
Jinoh
J
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D003094:Collagen / Q000378:metabolism*; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics*; D004721:Endoplasmic Reticulum / Q000378:metabolism; D005190:Family; D005347:Fibroblasts / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D033921:Vesicular Transport Proteins / Q000235:genetics
C512739:SEC23A protein, human; D033921:Vesicular Transport Proteins; D003094:Collagen