A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation.
Genevieve
D
D
Baumann
C
C
Huber
C
C
Faivre
L
L
Sanlaville
D
D
Bodemer
C
C
Hadj-Rabia
S
S
Assoumou
A
A
Verloes
A
A
Raqbi
F
F
Munnich
A
A
Cormier-Daire
V
V
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
D002135:Calcium-Binding Proteins; D003285:Contractile Proteins; D016326:Extracellular Matrix Proteins; C049028:elaunin; C060820:fibulin; C437744:oxytalan; D004549:Elastin; D008249:Protein-Lysine 6-Oxidase