Article
The phenotype spectrum of X-linked ichthyosis identified by chromosomal microarray.
Journal of the American Academy of Dermatology - 1 Apr 2015
Hand Jennifer L, Runke Cassandra K, Hodge Jennelle C
Abstract excerpt
BACKGROUND: Steroid sulfatase (STS) gene disruption causes X-linked ichthyosis (XLI). Interrogating the entire genome through chromosomal microarray (CMA), a test primarily used to screen patients with noncutaneous congenital anomalies, may detect STS deletions incidentally. OBJECTIVE: We sought to determine the variability of skin features associated with STS deletions diagnosed through CMA and to compare these...
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