Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

NFIA haploinsufficiency: case series and literature review

17 Oct 2023

Abstract excerpt

Background: -related disorder (OMIM #613735) is an autosomal dominant neurodevelopmental disorder characterized by a variable degree of cognitive impairment and non-specific dysmorphic features. To date, fewer than thirty patients affected by this disorder have been described. Methods: haploinsufficiency recruited from three medical genetics centers. Clinical presentations were recorded on a standardized case...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cellular transport and secretion
Share to Genomics and Rare Diseases
Share to Pancreatic function and diabetes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 37915986
DOI: 10.3389/fped.2023.1292654

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

NFIA haploinsufficiency: case series and literature reviewPMID 37915986Read ↗

NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.Semantic proximity Read ↗

MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review.Semantic proximity Read ↗

The expanding spectrum of NFIB-associated phenotypes in a diverse patient population-A report of two new patients.Semantic proximity Read ↗

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.Semantic proximity Read ↗

An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.Semantic proximity Read ↗

Novel biallelic ZNF335 variant causing primary microcephaly: A case report and radiological review.Semantic proximity Read ↗

Further characterization of NFIB-associated phenotypes: Report of two new individuals.Semantic proximity Read ↗

Expanding the phenotype of UPF3B-related disorder: Case reports and literature review.Semantic proximity Read ↗

Variants in nuclear factor I genes influence growth and development.Semantic proximity Read ↗

WDFY3 Haploinsufficiency Is Associated With Autosomal Dominant Neurodevelopmental Disorders and Macrocephaly.Semantic proximity Read ↗

Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability.Semantic proximity Read ↗

A clinical and genotype-phenotype analysis of MACF1 variants.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.