@article{5d3b3f342db84a6c84402fa74f6cd1a7,
title = "Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome",
keywords = "clinical genetics, musculoskeletal abnormality, linkage, molecular genetics, podosome, adaptor protein",
author = "Wilson, {Gabrielle R.} and Jasmine Sunley and Smith, {Katherine R.} and Kate Pope and Bromhead, {Catherine J.} and Elizabeth Fitzpatrick and {Di Rocco}, Maja and {van Steensel}, Maurice and Coman, {David J.} and Leventer, {Richard J.} and Delatycki, {Martin B.} and Amor, {David J.} and Melanie Bahlo and Lockhart, {Paul J.}",
year = "2014",
month = jun,
doi = "10.1038/ejhg.2013.229",
language = "English",
volume = "22",
pages = "741--747",
journal = "European Journal of Human Genetics",
issn = "1018-4813",
publisher = "Nature Publishing Group",
number = "6",
}