Article
Growth pattern of Rahman syndrome.
American journal of medical genetics. Part A - 1 Mar 2018
Takenouchi Toshiki, Uehara Tomoko, Kosaki Kenjiro, Mizuno Seiji
Abstract excerpt
Recently, in a cohort study with "overgrowth syndrome with intellectual disability," five subjects were reported to have de novo heterozygous truncating variants in HIST1H1E, which encodes linker histone H 1.4. However, their growth pattern appeared complex that four out of five patients had a decreasing height percentile over time, and three of these patients began with above-average heights but exhibited...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
