Article
The expanding spectrum of NFIB-associated phenotypes in a diverse patient population-A report of two new patients.
American journal of medical genetics. Part A - 1 Dec 2020
Barrus Kathleen, Rego Shannon, Yip Tiffany, Martin Pierre-Marie, Glen Orit A, Van Ziffle Jessica, Slavotinek Anne M
Abstract excerpt
NFIB (Nuclear Factor I B) haploinsufficiency has recently been identified as a cause of intellectual disability and macrocephaly. Here we describe two patients with pathogenic variants in NFIB. The first is a 6-year-old Latino male with developmental delays, mild hypotonia, facial anomalies, and brain magnetic resonance imaging findings comprising mild thinning of the corpus callosum, with more marked thinning of...
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