title: Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion.
authors.affiliation: Section of Genetics, Department of Pediatrics, University of California Davis Medical Center, Sacramento, CA, USA. simeon.boyd@ucdmc.ucdavis.edu
authors.forename: Simeon A
authors.initials: SA
authors.lastname: Boyadjiev
authors.forename: S-D
authors.initials: SD
authors.lastname: Kim
authors.forename: A
authors.initials: A
authors.lastname: Hata
authors.forename: C
authors.initials: C
authors.lastname: Haldeman-Englert
authors.forename: E H
authors.initials: EH
authors.lastname: Zackai
authors.forename: C
authors.initials: C
authors.lastname: Naydenov
authors.forename: S
authors.initials: S
authors.lastname: Hamamoto
authors.forename: R W
authors.initials: RW
authors.lastname: Schekman
authors.forename: Jinoh
authors.initials: J
authors.lastname: Kim
mesh_terms: 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
chemical_list: C512739:SEC23A protein, human; D033921:Vesicular Transport Proteins; D003094:Collagen