Personalized Treatment in Rare Genetic Syndromes: A Case-Report in Witteveen-Kolk Syndrome (SIN3A)

Neurocognitive evaluation enabled the adaptation of treatment strategies to the patients developmental and neurocognitive functioning, provided guidance in treatment choice, supported the rewriting of her personal narrative and resulted in successive care.

Authors

J.I.M. Egger (ORCID: https://orcid.org/0000-0002-9311-9013)
L.C.M. van Dongen (ORCID: https://orcid.org/0000-0003-4867-7267)
Marjolein H. Willemsen (ORCID: https://orcid.org/0000-0003-1213-5773)
Tjitske Kleefstra
Vincent Janssen
Maud C C Custers

Institutions

Radboud University Nijmegen (NL)
Erasmus MC (NL)
Radboud University Medical Center (NL)
Vincent Van Gogh Voor Geestelijke Gezondheidszorg (NL)

Publication Details

Journal: Molecular Syndromology
Published: 2025-10-04
DOI: https://doi.org/10.1159/000548791
Primary Topic: Tumors and Oncological Cases
Type: article
Field-Weighted Citation Impact: 0.00

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article

Personalized Treatment in Rare Genetic Syndromes: A Case-Report in Witteveen-Kolk Syndrome (SIN3A)

J.I.M. Egger, L.C.M. van Dongen, Marjolein H. Willemsen, Tjitske Kleefstra et al.

Oct 4, 2025

Molecular Syndromology

Tumors and Oncological Cases

article

Personalized Treatment in Rare Genetic Syndromes: A Case-Report in Witteveen-Kolk Syndrome (SIN3A)

J.I.M. Egger, L.C.M. van Dongen, Marjolein H. Willemsen, Tjitske Kleefstra, Vincent Janssen, Maud C C Custers

October 4, 2025article en

Abstract

Neurocognitive evaluation enabled the adaptation of treatment strategies to the patients developmental and neurocognitive functioning, provided guidance in treatment choice, supported the rewriting of her personal narrative and resulted in successive care.

Molecular Syndromology

Radboud University Nijmegen (NL), Erasmus MC (NL), Radboud University Medical Center (NL), Vincent Van Gogh Voor Geestelijke Gezondheidszorg (NL)

Openalex Percentile: Top 61%

Tumors and Oncological Cases

DOI Source OpenAlex

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Personalized Treatment in Rare Genetic Syndromes: A Case-Report in Witteveen-Kolk Syndrome (SIN3A) — J.I.M. Egger, L.C.M. van Dongen, et al. · Molecular Syndromology (2025) | TGRS Research Map | TGRS