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Paper Details

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.
J Med Genet
41
2016
AD, AD and dominant GD, ADAMSTS17, ADAMTS10, ADAMTSL2, Acromelic dysplasias, FBN1, GD, LTBP2, LTBP3, LTPB3, LTPB3 mutations, Myhre syndrome, Weill-Marchesani syndrome, acromelic dysplasia, acromicric dysplasia, brachydactyly, c.1846+5G, c.2087C, c.3912A, donor splice site mutation, exon 12, exon 14, exon 28, fibrillin-1, geleophysic dysplasia, latent transforming growth factor (TGF-)-binding protein-2, latent transforming growth factor (TGF-)-binding protein-3, ltbp3, lung involvement, mice, postnatal growth retardation of long bones, recessive GD, respiratory failure, short stature, thickened skin
Author NameAffiliation
Tony J KennaQueensland University of Technology (QUT), Institute of Health and Biomedical Innovation (IHBI), Australia The University of Queensland Diamantina Institute, University of Queensland
Patrick NitschkeUniversite Paris Descartes
Matthew A BrownQueensland University of Technology (QUT), Institute of Health and Biomedical Innovation (IHBI), Australia The University of Queensland Diamantina Institute, University of Queensland
Andreas ZanklUniversity of Sydney, Sydney Children's Hospital Network (Westmead)
Emma L DuncanQueensland University of Technology (QUT), Institute of Health and Biomedical Innovation (IHBI), Royal Brisbane and Women's Hospital, Australia The University of Queensland, University of Queensland Centre for Clinical Research
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