Article
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy.
American journal of medical genetics. Part A - 1 Mar 2020
Mendelsohn Bryce A, Beleford Daniah T, Abu-El-Haija Aya, Alsaleh Norah S, Rahbeeni Zuhair, Martin Pierre-Marie, Rego Shannon, Huang Alyssa, Capodanno Gina, Shieh Joseph T, Van Ziffle Jessica, Risch Neil, Alkuraya Fowzan S, Slavotinek Anne M
Abstract excerpt
We describe an 11-year old boy with severe global developmental delays, failure to thrive and growth retardation, refractory seizures with recurrent status epilepticus, hypogammaglobulinemia, hypergonadotropic hypogonadism, and duodenal strictures. He had facial and skin findings compatible with trichothiodystrophy, including sparse and brittle hair, thin eyebrows, and dry skin. Exome sequencing showed a...
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