Case report: ocular manifestations of <i>NFIX</i> -associated Malan syndrome

This case underscores the importance of genetic testing in patients with syndromic features, highlighting Malan syndrome as a differential diagnosis in cases of optic atrophy with overgrowth phenotypes.

Authors

Institutions

Publication Details

Journal
Ophthalmic Genetics
Published
2025-03-24
DOI
https://doi.org/10.1080/13816810.2025.2482609
Citations
2
Primary Topic
Cellular transport and secretion
Type
article
Field-Weighted Citation Impact
2.30
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Case report: ocular manifestations of NFIX -associated Malan syndrome

Andrew R. Carey, Florian H. Guillot, Altuğ Ay
2 citations
Ophthalmic Genetics
Cellular transport and secretion
2.30
article

Case report: ocular manifestations of NFIX -associated Malan syndrome

Andrew R. Carey, Florian H. Guillot, Altuğ Ay
article en
2 citations

Abstract

This case underscores the importance of genetic testing in patients with syndromic features, highlighting Malan syndrome as a differential diagnosis in cases of optic atrophy with overgrowth phenotypes.

Ophthalmic GeneticsVol. 46(4)
Bahçeşehir University (TR), Johns Hopkins University (US), Johns Hopkins Medicine (US)
Quality Education
Openalex Percentile: Top 15%
Cellular transport and secretion
2.30
DOISourceOpenAlex
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.