Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia

More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia

(2013) Allen L. Pimienta et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Immunolocalisation of fibrillin microfibrils in the calf metacarpal and vertebral growth plate

(2013) Jing Yu et al.   JOURNAL OF ANATOMY

A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1

(2012) Tomoko Lee et al.   GENE

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

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

Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

(2011) Carine Le Goff et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic and functional linkage between ADAMTS superfamily proteins and fibrillin-1: a novel mechanism influencing microfibril assembly and function

(2011) Dirk Hubmacher et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

(2011) S. Allali et al.   JOURNAL OF MEDICAL GENETICS

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

Clinical and morphological phenotype of geleophysic dysplasia

(2008) Özlem Giray et al.   ANNALS OF TROPICAL PAEDIATRICS

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation

(2008) Carine Le Goff et al.   NATURE GENETICS