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Encephalocraniocutaneous lipomatosis phenotype associated with mosaic biallelic pathogenic variants in the
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Steven Smeijers
,
Hilde Brems
,
Alexander Verhaeghe
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· 2024 · Journal of medical genetics
· added 2026-04-24
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
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Encephalocraniocutaneous lipomatosis (ECCL) is a sporadic congenital condition characterised by ocular, cutaneous and central nervous system involvement. Mosaic activating variants in
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DOI:
10.1136/jmg-2023-109785
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