Phakomatosis (redirect from Phakomatose)
Phakomatoses, also known as neurocutaneous syndromes, are a group of multisystemic diseases that most prominently affect structures primarily derived from...
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is a rare congenital neurological and skin disorder. It is one of the phakomatoses and is often associated with port-wine stains of the face, glaucoma,...
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691. ISBN 0-86542-939-1. Ruggieri M (2008). Neurocutaneous Disorders: Phakomatoses & Hamartoneoplastic Syndromes. Springer. p. 569. ISBN 978-3-211-21396-4...
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Epilepsy (section Phakomatoses)
Down syndrome and 90% of those with Angelman syndrome have epilepsy. Phakomatoses, also known as neurocutaneous disorders, are a group of multisystemic...
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S2CID 22402472. Martino Ruggieri (2005). Neurocutaneous Disorders : The Phakomatoses. Berlin: Springer. ISBN 978-3-211-21396-4. - Chapter: Multiple Endocrine...
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considered as RASopathies and as members of the neurocutaneous syndromes (phakomatoses). The diagnosis of neurofibromatosis is done via the following means:...
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"Nevoid Basal Cell Carcinoma (Gorlin) Syndrome". Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes. pp. 669–94. doi:10.1007/978-3-211-69500-5_45...
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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...
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cortical dysplasia cerebral atrophy lissencephaly bacterial meningitis phakomatoses (e.g. tuberous sclerosis) Aicardi syndrome cephalhematoma and vascular...
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S2CID 22402472. Martino Ruggieri (2005). Neurocutaneous Disorders : The Phakomatoses. Berlin: Springer. ISBN 978-3-211-21396-4. - Chapter: Multiple Endocrine...
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was a Dutch ophthalmologist. He is recognised for his concept of the phakomatoses, often called neurocutaneous syndromes. Van der Hoeve graduated from...
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David; Vivian, Antony; Taylor, David; Saunders, Down (1993). "36. The Phakomatoses". In Duane, Thomas (ed.). Duane's Clinical Ophthalmology. Vol. 5. Lippincott...
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Rocco, Concezio; Ruggieri, Martino (2008). Neurocutaneous disorders: phakomatoses and hamartoneoplastic syndromes (revised. ed.). Wien New York: Springer...
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Template:Congenital malformations and deformations of skin appendages, Template:Phakomatoses, Template:Pigmentation disorders, Template:DNA replication and repair-deficiency...
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Pascual; Rocco, Concezio Di (2009-10-01). Neurocutaneous Disorders: Phakomatoses & Hamartoneoplastic Syndromes. Springer Science & Business Media. p. 725...
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[emphasis in original].'" Ruggieri, Martino. "Neurocutaneous Disorders: Phakomatoses & Hamartoneoplastic Syndromes." Springer-Werlag/Vien, 2008. Rende, R...
10 KB (1,252 words) - 05:12, 11 June 2023
hamartomas (phakoma). He grouped both TSC and neurofibromatosis together as "phakomatoses" (later called neurocutaneous syndromes). 1924 H. Marcus noted that characteristic...
51 KB (5,410 words) - 00:55, 19 August 2024