Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill–Marchesani syndrome

Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome

(2013) Alana Cecchi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix

(2012) Ramona Haji-Seyed-Javadi et al.   HUMAN MUTATION

Fibrillin-1 Mutations Causing Weill-Marchesani Syndrome and Acromicric and Geleophysic Dysplasias Disrupt Heparan Sulfate Interactions

(2012) Stuart A. Cain et al.   PLoS One

Microenvironmental Regulation by Fibrillin-1

(2012) Gerhard Sengle et al.   PLoS Genetics

SignalP 4.0: discriminating signal peptides from transmembrane regions

(2011) Thomas Nordahl Petersen et al.   NATURE METHODS

Weill-Marchesani syndrome in mother and son

(2010) I. D. Young et al.   CLINICAL GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Homozygous Mutations in ADAMTS10 and ADAMTS17 Cause Lenticular Myopia, Ectopia Lentis, Glaucoma, Spherophakia, and Short Stature

(2009) Jose Morales et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme

(2008) Wendy E. Kutz et al.   HUMAN MUTATION