Marfanoid-progeroid-lipodystrophy syndrome: A newly recognized fibrillinopathy

European Journal of Human Genetics

Volumn 24, Issue 9, 2016, Pages 1244-1247

  Passarge, Eberhard ^a,b   Robinson, Peter N ^c   Graul Neumann, Luitgard M ^c  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b UNIVERSITY HOSPITAL LEIPZIG   (Germany)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

FIBRILLIN 1; FBN1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARACHNODACTYLY; AUTOSOMAL DOMINANT DISORDER; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CODON; DISEASE SEVERITY; DURAL ECTASIA; EXON; FACIES; FEMALE; FIBRILLINOPATHY; GENE DELETION; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HISTOPATHOLOGY; HUMAN; INTRAUTERINE GROWTH RETARDATION; LENS LUXATION; LIPODYSTROPHY; MALE; MARFAN SYNDROME; MARFANOID PROGEROID LIPODYSTROPHY SYNDROME; MITRAL VALVE PROLAPSE; MYOPIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGERIA; REVIEW; SCHOOL CHILD; SCOLIOSIS; YOUNG ADULT; GENETICS; PLEIOTROPY;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; FIBRILLIN-1; GENETIC PLEIOTROPY; HUMANS; LIPODYSTROPHY; MALE; MARFAN SYNDROME; PROGERIA;

EID: 84957818654     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2016.6     Document Type: Review

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