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Article

Further characterization of NFIB-associated phenotypes: Report of two new individuals.

American journal of medical genetics. Part A - 1 Feb 2023

Marinella Gemma, Conti Eugenia, Buchignani Bianca, Sgherri Giada, Pasquariello Rosa, Giordano Flavio, Cristofani Paola, Battini Roberta, Battaglia Agatino

Abstract excerpt

Nuclear Factor I B (NFIB) haploinsufficiency has recently been identified as a cause of intellectual disability (ID) and macrocephaly. Here we report on two new individuals carrying a microdeletion in the chromosomal region 9p23-p22.3 containing NFIB. 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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36321570
DOI: 10.1002/ajmg.a.63018
PMCID: PMC10091694

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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