Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome

PURPOSE: Microphthalmia with linear skin defects syndrome (MLS or MIDAS, OMIM #309801) is a rare X-linked male-lethal disorder characterized by microphthalmia or other ocular anomalies and skin lesions limited to the face and neck. However, inter- and intrafamilial variability is high. Here we repor...

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Detalles Bibliográficos
Autores principales: Vergult, Sarah, Leroy, Bart, Claerhout, Ilse, Menten, Björn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3566894/
https://www.ncbi.nlm.nih.gov/pubmed/23401659

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3566894/
https://www.ncbi.nlm.nih.gov/pubmed/23401659

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