Neurofibromatose - Open Access .click

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médecine/sciences, 2001
La neurofibromatose 1 (NF1) est une maladie autosomique dominante qui atteint environ 1 individu sur 4 000. Le gene NF1 situe sur le chromosome 17 en q11.2 est constitue d’un domaine d’environ 335 kilobases et code pour une proteine de 2 818 acides amines, la neurofibromine. C’est un gene suppresseur de tumeur.
openaire +1 more source

Neurofibromatose tipo 1: relato de um caso clínico

Revista Portuguesa de Medicina Geral e Familiar, 2013
Introdução: A neurofibromatose tipo 1 (NF1) é uma doença neurocutânea de hereditariedade autossómica dominante, ocorrendo mutações de novo em cerca de metade dos casos.
Ana Catarina Marques, Fátima Dinis
doaj +1 more source

Genodermatosen, die der Praktiker kennen muss [PDF]

, 2018
Zusammenfassung: Gesundheit oder Krankheit sind das Resultat von genetischer Konstellation und genetischer Veranlagung. Monogene Erkrankungen werden sehr stark durch die Mutation eines einzigen Gens phänotypisch geprägt.
Itin, P., Salgado, D.A.
core

CORRECTION OF SEVERE DYSTROPHIC SCOLIOSIS IN NEUROFIBROMATOSIS 1 WITH POSTERIOR VERTEBRAL COLUMN RESECTION IN MULTIPLE LEVELS

Coluna/Columna
Objective To evaluate the results after multiple posterior vertebral column resection (PVCR) in patients with severe kyphoscoliosis secondary to neurofibromatosis type 1 (NF-1).
ALDERICO GIRÃO CAMPOS DE BARROS +5 more
doaj +1 more source

Scientific and Educational Value of Case Reports [PDF]

, 2017
info:eu-repo/semantics ...
Donato, H
core

[Cosmetic and functional results after resection of cutaneous neurofibroma in neurofibromatosis type 1 : Operation of neurofibroma improves quality of life while having moderate complications]. [PDF]