@article{008077447,
title = "A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly",
author = "Babcock, D. and Gasner, C. and Francke, U. and Maslen, C.",
year = "1998",
journal = "Human Genetics",
volume = "103",
number = "1",
pages = "22-28",
issn = "0340-6717",
doi = "10.1007/s004390050777",
url = "https://eurekamag.com/research/008/077/008077447.php"
}