The rare neurocutaneous disorders: update on clinical, molecular, and neuroimaging features
FS Barros, VHR Marussi, LLF Amaral… - Topics in Magnetic …, 2018 - journals.lww.com
Phakomatoses, also known as neurocutaneous disorders, comprise a vast number of
entities that predominantly affect structures originated from the ectoderm such as the central …
entities that predominantly affect structures originated from the ectoderm such as the central …
[HTML][HTML] Short stature and growth hormone deficiency in a girl with encephalocraniocutaneous lipomatosis and Jaffe-Campanacci syndrome: a case report
E mi Choi, N Jung, YJ Shim, HJ Choi… - Annals of Pediatric …, 2016 - ncbi.nlm.nih.gov
A 9-year-old Tajikistani girl presented to Keimyung University Dongsan Medical Center for
evaluation of a skin lesion on her left eyelid, focal alopecia, unilateral ventricular dilatation …
evaluation of a skin lesion on her left eyelid, focal alopecia, unilateral ventricular dilatation …
FGFR1 mosaic pathogenic variant in encephalocraniocutaneous lipomatosis with leptomeningeal Angiomatosis
MGG de la Banda, P Fernández-Álvarez… - Journal of Pediatric …, 2020 - thieme-connect.com
Encephalocraniocutaneous lipomatosis (ECCL) is a congenital neurocutaneous disorder. It
is characterized by ocular anomalies (epibulbar choristomas), skin lesions (as nevus …
is characterized by ocular anomalies (epibulbar choristomas), skin lesions (as nevus …