Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene

European Journal of Medical Genetics

Volumn 57, Issue 5, 2014, Pages 230-234

  Jacquinet, Adeline ^a   Verloes, Alain ^b   Callewaert, Bert ^c   Coremans, Christine ^d   Coucke, Paul ^c   de Paepe, Anne ^c   Kornak, Uwe ^e,f   Lebrun, Frederic ^d   Lombet, Jacques ^g   Piérard, Gérald E ^a   Robinson, Peter N ^e,f   Symoens, Sofie ^c   Van Maldergem, Lionel ^h   Debray, François Guillaume ^a,d  

^a UNIVERSITY OF LIÈGE   (Belgium)

^b HÔPITAL ROBERT DEBRÉ   (France)

^c GHENT UNIVERSITY HOSPITAL   (Belgium)

^d Clinique de l'Esperance   (Belgium)

^e CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^f MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^g Departement Universitaire de Pediat   (Belgium)

^h UNIVERSITÉ DE FRANCHE COMTÉ   (France)

Author keywords

Congenital lipodystrophy; Fibrillinopathy; Marfano d features; Neonatal progeria

Indexed keywords

FIBRILLIN 1; FURIN; MESSENGER RNA; ACTIN BINDING PROTEIN; FIBRILLIN;

3' UNTRANSLATED REGION; ADOLESCENT; AORTA DISEASE; AORTIC BULB DILATATION; ARTICLE; BIRTH; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CONGENITAL DISORDER; CONGENITAL LIPODYSTROPHY; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MARFAN SYNDROME; MARFANOID HABITUS; MISSENSE MUTATION; MYOPIA; NEONATAL PROGEROID SYNDROME; NUCLEOTIDE SEQUENCE; PHENOTYPE; PROGERIA; PROTEIN CLEAVAGE; WIEDEMANN RAUTENSTRAUCH SYNDROME; AMINO ACID SEQUENCE; FETAL GROWTH RETARDATION; GENETICS; LIPODYSTROPHY; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; FEMALE; FETAL GROWTH RETARDATION; HUMANS; LIPODYSTROPHY; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MOLECULAR DIAGNOSTIC TECHNIQUES; MOLECULAR SEQUENCE DATA; PROGERIA;

EID: 84899657611     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2014.02.012     Document Type: Article

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