SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions

BACKGROUND: Developmental eye anomalies, which include anophthalmia (absent eye) or microphthalmia (small eye) are an important cause of severe visual impairment in infants and young children. Heterozygous mutations in SOX2, a SOX1B‐HMG box transcription factor, have been found in up to 10% of indiv...

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Detalhes bibliográficos
Main Authors: Bakrania, P, Robinson, D O, Bunyan, D J, Salt, A, Martin, A, Crolla, J A, Wyatt, A, Fielder, A, Ainsworth, J, Moore, A, Read, S, Uddin, J, Laws, D, Pascuel‐Salcedo, D, Ayuso, C, Allen, L, Collin, J R O, Ragge, N K
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2007
Assuntos:
Extended Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2095460/
https://ncbi.nlm.nih.gov/pubmed/17522144
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjo.2007.117929
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