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Your search keyword '"Febrer Bosch I"' showing total 2 results
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2 results on '"Febrer Bosch I"'

1. Microphthalmia with linear skin defects syndrome

Author

García-Rabasco A, De-Unamuno B, MARTINEZ, F., Febrer-Bosch I, and Alegre-de-Miquel V

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, integumentary system, SCLEROCORNEA, MLS SYNDROME, chemical and pharmacologic phenomena, sense organs, eye diseases
Abstract

Microphthalmia with linear skin defects (MLS) or microcornea, dermal aplasia and sclerocornea (MIDAS) syndrome is a rare X-linked-dominant disorder. We present a patient with agenesis of corpus callosum, ocular abnormalities, and multiple skin defects. The cytogenetic studies of the MLS critical region (Xp22.2) were normal, but a skewed X-chromosome inactivation pattern (85:15) was observed.

Published
2013

2. [Kaposi sarcoma and Hodgkin disease]

Author

Pujol Marco C, Alegre de Miguel V, Carlos Camps, Febrer Bosch I, Oliver Martínez V, Guillén Barona C, and Jm, Fortea Baixauli

Subjects
Adult, Skin Neoplasms, Humans, Female, Disease Susceptibility, Hodgkin Disease, Sarcoma, Kaposi
Abstract

Kaposi's sarcoma is frequently associated to other primary neoplasias, especially those arising from mononuclear-phagocytic system. A case of Kaposi's sarcoma associated to Hodgkin's disease is presented.

Published
1989

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