Case Report: Phenotypic and genetic characterization of a presumptive sporadic hypothalamic hamartoma in a standard Schnauzer dog

Sporadic HH should be considered in the differential diagnoses list for a young dog with chronic progressive intracranial neurologic signs and may be genetically associated with germline mutations in primary cilia-related genes.

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Publication Details

Journal
Frontiers in Veterinary Science
Published
2025-05-27
DOI
https://doi.org/10.3389/fvets.2025.1591863
Primary Topic
Hedgehog Signaling Pathway Studies
Type
article
Field-Weighted Citation Impact
0.00
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article

Case Report: Phenotypic and genetic characterization of a presumptive sporadic hypothalamic hamartoma in a standard Schnauzer dog

Alberta De Stefani, Patrick Santens, Theofanis Liatis, Elizabeth Attree et al.
Frontiers in Veterinary Science
Hedgehog Signaling Pathway Studies
article

Case Report: Phenotypic and genetic characterization of a presumptive sporadic hypothalamic hamartoma in a standard Schnauzer dog

Alberta De Stefani, Patrick Santens, Theofanis Liatis, Elizabeth Attree, Luis Blanco, Androniki Psifidi
article en

Abstract

Sporadic HH should be considered in the differential diagnoses list for a young dog with chronic progressive intracranial neurologic signs and may be genetically associated with germline mutations in primary cilia-related genes.

Frontiers in Veterinary ScienceVol. 12
University of London (GB), Royal Veterinary College (GB), Universitair Ziekenhuis Leuven (BE), Universitair Ziekenhuis Brussel (BE)
Openalex Percentile: Top 89%
Hedgehog Signaling Pathway Studies
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Case Report: Phenotypic and genetic characterization of a presumptive sporadic hypothalamic hamartoma in a standard Schnauzer dog — Alberta De Stefani, Patrick Santens, et al. · Frontiers in Veterinary Science (2025) | TGRS Research Map | TGRS