Netherton Syndrome : is diagnosed by molecular genetic testing for mutations of the SPINX gene on Chromosome 5q32. Other tests to determine the level of severity are found on www.genecards.org/cgi-bin/carddisp.pl?gene=SPINK5&search=spink5. Geneticists, dermatologists & other specialists provide diagnosis & management. See: www.firstskinfoundation.org/content.cfm/Ichthyosis/Netherton-Syndrome-Fact-Sheet/page_id/901
Answered 11/11/2015
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