Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics

BACKGROUND: Congenital cataracts are clinically and genetically heterogeneous with more than 45 known loci and 38 identified genes. They can occur as isolated defects or in association with anterior segment developmental anomalies. One of the disease genes for congenital cataract with or without ant...

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Detalles Bibliográficos
Autores principales: Verdin, Hannah, Sorokina, Elena A, Meire, Françoise, Casteels, Ingele, de Ravel, Thomy, Semina, Elena V, De Baere, Elfride
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3937428/
https://www.ncbi.nlm.nih.gov/pubmed/24555714
http://dx.doi.org/10.1186/1750-1172-9-26

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