This article is protected by copyright. All rights reserved Original Article A heterozygous splice-site mutation in PTHLH causes autosomal dominant shortening of metacarpals and -tarsals † Monica Reyes 1 , Bert Bravenboer 2 , and Harald Jüppner 1,3 1 Endocrine Unit and 3 Pediatric Nephrology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA 2 Department of Endocrinology, Universitair Ziekenhuis Brussels, Brussels, Belgium † This article has been accepted for publication and undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process, which may lead to differences between this version and the Version of Record. Please cite this article as doi: [10.1002/jbmr.3628] Additional Supporting Information may be found in the online version of this article. Initial Date Submitted July 27, 2018; Date Revision Submitted October 19, 2018; Date Final Disposition Set November 4, 2018 Journal of Bone and Mineral Research This article is protected by copyright. All rights reserved DOI 10.1002/jbmr.3628 Accepted Article