-
Phakomatoses, also
known as
neurocutaneous syndromes, are a
group of
multisystemic diseases that most
prominently affect structures primarily derived from...
- angiomatosis, is a rare
congenital neurocutaneous disorder (also
known as
phakomatoses). It is
often ****ociated with port-wine
stains of the face, glaucoma...
-
considered as
RASopathies and as
members of the
neurocutaneous syndromes (
phakomatoses). The
diagnosis of
neurofibromatosis is done via the
following means:...
- SYNGAP1 and DNM1, GABBR2, FASN and RYR3. Some
genetic disorders,
including phakomatoses such as
tuberous sclerosis complex and Sturge–Weber syndrome, are strongly...
- "Nevoid
Basal Cell
Carcinoma (Gorlin) Syndrome".
Neurocutaneous Disorders Phakomatoses and
Hamartoneoplastic Syndromes. pp. 669–94. doi:10.1007/978-3-211-69500-5_45...
- S2CID 22402472.
Martino Ruggieri (2005).
Neurocutaneous Disorders : The
Phakomatoses. Berlin: Springer. ISBN 978-3-211-21396-4. - Chapter:
Multiple Endocrine...
- Pascual-Castroviejo I, Di
Rocco C (eds.).
Neurocutaneous Disorders:
Phakomatoses and
Hamartoneoplastic Syndromes. Springer. pp. 407–26. doi:10.1007/978-3-211-69500-5_19...
- was a
Dutch ophthalmologist. He is
recognised for his
concept of the
phakomatoses,
often called neurocutaneous syndromes. Van der
Hoeve graduated from...
-
syndrome Cerebrovascular malformations[citation needed]
Genetic disorders Phakomatoses (e.g.
tuberous sclerosis)
lncontinentia pigmenti Foix–Chavany–Marie syndrome[citation...
- David; Vivian, Antony; Taylor, David; Saunders, Down (1993). "36. The
Phakomatoses". In Duane,
Thomas (ed.). Duane's
Clinical Ophthalmology. Vol. 5. Lippincott...
