title: A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation.
authors.forename: D
authors.initials: D
authors.lastname: Genevieve
authors.forename: C
authors.initials: C
authors.lastname: Baumann
authors.forename: C
authors.initials: C
authors.lastname: Huber
authors.forename: L
authors.initials: L
authors.lastname: Faivre
authors.forename: D
authors.initials: D
authors.lastname: Sanlaville
authors.forename: C
authors.initials: C
authors.lastname: Bodemer
authors.forename: S
authors.initials: S
authors.lastname: Hadj-Rabia
authors.forename: A
authors.initials: A
authors.lastname: Assoumou
authors.forename: A
authors.initials: A
authors.lastname: Verloes
authors.forename: F
authors.initials: F
authors.lastname: Raqbi
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: V
authors.initials: V
authors.lastname: Cormier-Daire
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002135:Calcium-Binding Proteins / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002972:Cleft Palate / Q000473:pathology*; D003285:Contractile Proteins / Q000032:analysis; D003483:Cutis Laxa / Q000473:pathology*; D004549:Elastin / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000032:analysis; D005145:Face / Q000002:abnormalities*; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000473:pathology*; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D008249:Protein-Lysine 6-Oxidase / Q000235:genetics; D012867:Skin / Q000737:chemistry / Q000473:pathology; D013577:Syndrome
chemical_list: D002135:Calcium-Binding Proteins; D003285:Contractile Proteins; D016326:Extracellular Matrix Proteins; C049028:elaunin; C060820:fibulin; C437744:oxytalan; D004549:Elastin; D008249:Protein-Lysine 6-Oxidase