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Amnion nodosum and congenital ichthyosis
(American Society of Clinical Pathologists, 2011)
Ichthyosis follicularis, alopecia and photophobia syndrome (IFAP): report of the first case with ocular and cutaneous manifestations in Brazil with a favorable response to treatment
(Conselho Brasileiro de Oftalmologia, 2011-02-01)
Ichthyosis follicular, alopecia, and photophobia (IFAP) syndrome is a rare disease, with possible X-linked mode of inheritance. The patient presented with ocular findings of photophobia, corneal scarring and erosions, ...
Exoma na prática clínica: expansão fenotípica, dismorfologia reversa e descoberta de novos genes
(Universidade Federal de São Paulo (UNIFESP), 2016-12-21)
Purpose: To analyze candidate variants for previous selected patients with Mendelian Diseases using Whole Exome Sequencing (WES). Methods: Patients were obtained from PhenoDB platform and reviewed by a Committee. Those who ...
Reações adversas à poliquimioterapia em hanseníaseAdverse Effects of Multidrug therapy in Leprosy
(Universidade Federal de SergipePós-Graduação em Ciências da SaúdeBRUFS, 2017)