👤 Hilde Brems
🔍 Search
📋 Browse
🏷️ Tags
❤️ Favourites
➕ Add
🧬 Extraction
1
Articles
articles
Encephalocraniocutaneous lipomatosis phenotype associated with mosaic biallelic pathogenic variants in the
🤍
Steven Smeijers
,
Hilde Brems
,
Alexander Verhaeghe
+8 more
· 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
Show less
Encephalocraniocutaneous lipomatosis (ECCL) is a sporadic congenital condition characterised by ocular, cutaneous and central nervous system involvement. Mosaic activating variants in
no PDF
DOI:
10.1136/jmg-2023-109785
📋
FGFR1
1