Publications:

A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias.

Human Molecular Genetics

Jensen, Sacha A SA; Iqbal, Sarah S; Bulsiewicz, Alicja A; Handford, Penny A PA

Publication Date: 2015-08-01

Variant appearance in text: FBN1: G1594N

PubMed Link: 25979247

Variant Present in the following documents:

• Main text
• ddv181.pdf

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Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.

Science Translational Medicine

Loeys, B L BL; Gerber, E E EE; Riegert-Johnson, D D; Iqbal, S S; Whiteman, P P; McConnell, V V; Chillakuri, C R CR; Macaya, D D; Coucke, P J PJ; De Paepe, A A; Judge, D P DP; Wigley, F F; Davis, E C EC; Mardon, H J HJ; Handford, P P; Keene, D R DR; Sakai, L Y LY; Dietz, H C HC

Publication Date: 2010-03-17

Variant appearance in text: FBN1: Gly1594Asn

PubMed Link: 20375004

Variant Present in the following documents:

• Main text

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