Cranio-Lenticulo-Sutural Dysplasia associated with defects in collagen secretion

Cranio-lenticulo-sutural dysplasia (CLSD) is a rare autosomal recessive syndrome manifesting with large and late closing fontanels and calvarial hypomineralization, Y-shaped cataracts, skeletal defects, and hypertelorism and other facial dysmorphisms. The CLSD locus was mapped to chromosome 14q13-q2...

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Autores principales: Boyadjiev, Simeon A., Kim, Sun-Don, Hata, Abigail, Haldeman-Englert, Chad, Zackai, Elaine H., Naydenov, Cyrill, Hamamoto, Susan, Schekman, Randy W., Kim, Jinoh
Formato: Artigo
Lenguaje:Inglês
Publicado: 2010
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4143380/
https://ncbi.nlm.nih.gov/pubmed/21039434
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-0004.2010.01550.x
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