Microphthalmia with linear skin defects syndrome

Authors :: García-Rabasco A
De-Unamuno B
MARTINEZ, F.
Febrer-Bosch I
Alegre-de-Miquel V
Source :: PEDIATRIC DERMATOLOGY, r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe, instname
Publication Year :: 2013
Publisher :: WILEY, 2013.
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.

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

ISSN :: 07368046
Database :: OpenAIRE
Journal :: PEDIATRIC DERMATOLOGY, r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe, instname
Accession number :: edsair.RECOLECTA.....e3af5a978a915921c2299407ded5dc01

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