Congenital melanocytic nevi in Bardet-Biedl syndrome

Our findings suggest that BBS is associated with CMN, possibly through altered neural crest cell migration. Screening for CMN shows a promise as a potential non-invasive screening tool to aid in earlier diagnosis of BBS.

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Publication Details

Journal
Orphanet Journal of Rare Diseases
Published
2025-08-28
DOI
https://doi.org/10.1186/s13023-025-03870-6
Primary Topic
Genetic and Kidney Cyst Diseases
Type
article
Field-Weighted Citation Impact
0.00

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article

Congenital melanocytic nevi in Bardet-Biedl syndrome

Jesse Richards, Jeremy Pomeroy, Phu Hoang Dang, Karli Shelton et al.
Orphanet Journal of Rare Diseases
Genetic and Kidney Cyst Diseases
article

Congenital melanocytic nevi in Bardet-Biedl syndrome

Jesse Richards, Jeremy Pomeroy, Phu Hoang Dang, Karli Shelton, Courtney McCorkle, Nicholas Hollman, Pooja Mallipaddi
article en

Abstract

Our findings suggest that BBS is associated with CMN, possibly through altered neural crest cell migration. Screening for CMN shows a promise as a potential non-invasive screening tool to aid in earlier diagnosis of BBS.

Orphanet Journal of Rare DiseasesVol. 20(1)
Tulsa Community College (US), Marshfield Clinic (US)
University of Oklahoma
Openalex Percentile: Top 75%
Genetic and Kidney Cyst Diseases
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