Further characterization of NFIB-associated phenotypes: Report of two new individuals.
Marinella G, Conti E, Buchignani B, Sgherri G, Pasquariello R, Giordano F, Cristofani P, Battini R, Battaglia A.
Marinella G, et al.
Am J Med Genet A. 2023 Feb;191(2):540-545. doi: 10.1002/ajmg.a.63018. Epub 2022 Nov 2.
Am J Med Genet A. 2023.
PMID: 36321570
Free PMC article.
The first is a 7-year 9-month old boy with developmental delays, ID, definite facial anomalies, and brain and spinal cord magnetic resonance imaging findings including periventricular nodular heterotopia, hypoplasia of the corpus callosum, arachnoid cyst in the left middle crania …
The first is a 7-year 9-month old boy with developmental delays, ID, definite facial anomalies, and brain and spinal cord magnetic resonance …