Encephalocraniocutaneous lipomatosis phenotype associated with mosaic biallelic pathogenic variants in the NF1 gene

Steven Smeijers; Hilde Brems; Alexander Verhaeghe; Wim van Paesschen; Johannes van Loon; Seppe Van der Auweraer; Raf Sciot; Dietmar Rudolf Thal; Lieven Lagae; Eric Legius; Tom Theys

doi:10.1136/jmg-2023-109785

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Somatic mosaicism

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Encephalocraniocutaneous lipomatosis phenotype associated with mosaic biallelic pathogenic variants in the NF1 gene

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Steven Smeijers Department of Neurosurgery, KU Leuven University Hospitals, Leuven, Belgium PubMed articles Google scholar articles
Hilde Brems Center for Human Genetics and Department of Human Genetics, KU Leuven University Hospitals, Leuven, Belgium PubMed articles Google scholar articles
Alexander Verhaeghe Department of Neurosurgery, AZ Sint-Jan AV, Brugge, Belgium PubMed articles Google scholar articles
Wim van Paesschen Department of Neurology, KU Leuven University Hospitals, Leuven, Belgium PubMed articles Google scholar articles
Johannes van Loon Department of Neurosurgery, KU Leuven University Hospitals, Leuven, Belgium PubMed articles Google scholar articles
Seppe Van der Auweraer Center for Human Genetics and Department of Human Genetics, KU Leuven University Hospitals, Leuven, Belgium PubMed articles Google scholar articles
Raf Sciot Department of Pathology, KU Leuven University Hospitals, Leuven, Belgium PubMed articles Google scholar articles
Dietmar Rudolf Thal Department of Pathology, KU Leuven University Hospitals, Leuven, Belgium Laboratory for Neuropathology, Department of Imaging and Pathology and Leuven Brain Institute, KULeuven, Leuven, Belgium PubMed articles Google scholar articles
Lieven Lagae Department of Paediatric Neurology, University of Leuven, Leuven, Belgium PubMed articles Google scholar articles
Eric Legius Center for Human Genetics and Department of Human Genetics, KU Leuven University Hospitals, Leuven, Belgium PubMed articles Google scholar articles
Tom Theys Department of Neurosurgery, KU Leuven University Hospitals, Leuven, Belgium PubMed articles Google scholar articles

Correspondence to Dr Steven Smeijers, Department of Neurosurgery, KU Leuven University Hospitals, Leuven, Belgium; steven.smeijers{at}uzleuven.be

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Citation

Smeijers S, Brems H, Verhaeghe A, et al

Encephalocraniocutaneous lipomatosis phenotype associated with mosaic biallelic pathogenic variants in the NF1 gene

Journal of Medical Genetics 2024;61:904-907.

Publication history

Received November 27, 2023
Accepted May 21, 2024
First published June 1, 2024.

Online issue publication

August 29, 2024

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