Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene

American Journal of Medical Genetics, Part A

Volumn 152, Issue 11, 2010, Pages 2749-2755

  Graul Neumann, Luitgard M ^a   Kienitz, Tina ^a   Robinson, Peter N ^a   Baasanjav, Sevjidmaa ^a,b   Karow, Benjamin ^a   Gillessen Kaesbach, Gabriele ^c   Fahsold, Raimund ^d   Schmidt, Hartmut ^a,e   Hoffmann, Katrin ^a   Passarge, Eberhard ^f  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b UNIVERSITY HOSPITAL LEIPZIG   (Germany)

^c UNIVERSITY OF LÜBECK   (Germany)

^d Lübeck ^*  (Germany)

^e UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^f UNIVERSITY HOSPITAL ESSEN   (Germany)

Author keywords

FBN1 mutation; Lipodystrophy; Marfan syndrome; Neonatal progeroid syndrome

Indexed keywords

FIBRILLIN 1;

ADULT; AMINO ACID SUBSTITUTION; ARTERY DILATATION; ARTICLE; CASE REPORT; DISEASE SEVERITY; DURAL ECTASIA; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENETIC ASSOCIATION; HETEROZYGOSITY; HUMAN; LENS SUBLUXATION; LIPODYSTROPHY; MARFAN SYNDROME; MYOPIA; NEONATAL PROGEROID SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROGERIA; SKELETON MALFORMATION; SUBCUTANEOUS FAT;

ADOLESCENT; ADULT; BODY FAT DISTRIBUTION; CHILD; CHILD, PRESCHOOL; ELECTRIC IMPEDANCE; FEMALE; FRAMESHIFT MUTATION; HUMANS; INFANT, NEWBORN; LIPODYSTROPHY; MAGNETIC RESONANCE IMAGING; MARFAN SYNDROME; MICROFILAMENT PROTEINS; PREGNANCY; PROGERIA; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; YOUNG ADULT;

EID: 78049297136     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33690     Document Type: Article

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