Neurodevelopmental disorder: Hao–Fountain syndrome with USP7 mutation—a case report

Reporting all the symptoms of such a rare genetic case in detail emphasizes the importance of interdisciplinary teamwork and the necessity of raising awareness among therapists about probable upcoming problems; sharing such evident information with parents would help them manage the complexity of raising children with rare syndromes.

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Publication Details

Journal
Journal of Medical Case Reports
Published
2025-07-24
DOI
https://doi.org/10.1186/s13256-025-05403-y
Citations
1
Primary Topic
Connective tissue disorders research
Type
article
Field-Weighted Citation Impact
1.82
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article

Neurodevelopmental disorder: Hao–Fountain syndrome with USP7 mutation—a case report

Narges Nouri, Elahe Keyhani, Nazila Akbarfahimi, Fatemeh Rafeienejad
1 citations
Journal of Medical Case Reports
Connective tissue disorders research
1.82
article

Neurodevelopmental disorder: Hao–Fountain syndrome with USP7 mutation—a case report

Narges Nouri, Elahe Keyhani, Nazila Akbarfahimi, Fatemeh Rafeienejad
article en
1 citations

Abstract

Reporting all the symptoms of such a rare genetic case in detail emphasizes the importance of interdisciplinary teamwork and the necessity of raising awareness among therapists about probable upcoming problems; sharing such evident information with parents would help them manage the complexity of raising children with rare syndromes.

Journal of Medical Case ReportsVol. 19(1)
University of Isfahan (IR), University of Social Welfare and Rehabilitation Sciences (IR)
Openalex Percentile: Top 14%
Connective tissue disorders research
1.82
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