@article{09abb6eaf02c4e4182027b34fd0d4537,
title = "A novel silent mutation in the NSDHL gene causing CHILD syndrome as a result of aberrant splicing",
keywords = "Aberrant splicing, Congenital hemidysplasia with ichthyosiform naevus and limb defects, NSDHL, X-chromosome inactivation",
author = "M. Saito and A. Ishiko",
year = "2008",
month = nov,
doi = "10.1111/j.1365-2133.2008.08800.x",
language = "English",
volume = "159",
pages = "1204--1206",
journal = "British Journal of Dermatology",
issn = "0007-0963",
publisher = "Wiley-Blackwell",
number = "5",
}