Article
Intrafamilial clinical variability in four families with incontinentia pigmenti.
American journal of medical genetics. Part A - 1 Nov 2018
Mariath Luiza M, Santa Maria Fernanda D, Poziomczyk Cláudia S, Travi Giovanni M, Wachholz Gabriela E, De Souza Stephanie R, Kiszewski Ana E, Schuler-Faccini Lavínia
Abstract excerpt
Incontinentia Pigmenti (IP) is an X-linked rare genodermatosis caused by mutations in the IKBKG gene, which is essential to NF-κB pathway activation and thus fundamental for cell survival. Our objective was to study the intrafamilial clinical variability in IP by investigating how the signs of IP, and especially dental anomalies, vary within affected families. Four families, encompassing a total of 15 IP familial...
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