Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation

Author:

Faivre L,Collod-Beroud G,Callewaert B,Child A,Binquet C,Gautier E,Loeys B L,Arbustini E,Mayer K,Arslan-Kirchner M,Stheneur C,Kiotsekoglou A,Comeglio P,Marziliano N,Wolf J E,Bouchot O,Khau-Van-Kien P,Beroud C,Claustres M,Bonithon-Kopp C,Robinson P N,Adès L,De Backer J,Coucke P,Francke U,De Paepe A,Jondeau G,Boileau C

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference53 articles.

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3. Karttunen L, Raghunath M, Lonnqvist L, Peltonen L : Compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype. Am J Hum Genet 1994; 55: 1083–1091.

4. De Vries BBA, Pals G, Odink R, Hamel BCJ : Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndrome. Eur J Hum Genet 2007; 15: 930–935.

5. Milewicz DM, Duvic M : Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15. Am J Hum Genet 1994; 54: 447–453.

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