Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.
Collod-Béroud
G
G
Lackmy-Port-Lys
M
M
Jondeau
G
G
Mathieu
M
M
Maingourd
Y
Y
Coulon
M
M
Guillotel
M
M
Junien
C
C
Boileau
C
C
D000293:Adolescent; D018376:Cardiovascular Abnormalities / Q000235:genetics*; D002648:Child; D005091:Exons / Q000235:genetics; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D005602:France; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D009030:Mosaicism / Q000235:genetics*; D009139:Musculoskeletal Abnormalities / Q000235:genetics*; D009679:Nuclear Family; D010641:Phenotype; D018807:Polymorphism, Single-Stranded Conformational; D054392:Adipokines
D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines