期刊
CURRENT OPINION IN GENETICS & DEVELOPMENT
卷 15, 期 3, 页码 348-353出版社
CURRENT BIOLOGY LTD
DOI: 10.1016/j.gde.2005.04.013
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资金
- Medical Research Council [MC_U127527199] Funding Source: researchfish
- MRC [MC_U127527199] Funding Source: UKRI
- Medical Research Council [MC_U127527199] Funding Source: Medline
In developed countries, malformations of the eye are among the most common causes of serious visual impairment in newborns. The identification of pathogenic mutations in autosomal and X-linked transcription factors has advanced our understanding of the critical stages in human eye development and has begun to explain some unusual inheritance characteristics of these disorders. The functional characterisation of these genes in model organisms has prompted reinvestigation of affected individuals to identify previously unrecognized but consistent extra-ocular malformations. This dialogue between clinical genetics and basic developmental biology provides a paradigm to enhance our understanding of many critical developmental processes in human embryogenesis.
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