相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。OTX2 mutations contribute to the otocephaly-dysgnathia complex
Nicolas Chassaing et al.
JOURNAL OF MEDICAL GENETICS (2012)
Targeted 'Next-Generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations
Nelson Lopez Jimenez et al.
BMC MEDICAL GENETICS (2011)
OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype
K. F. Schilter et al.
CLINICAL GENETICS (2011)
Eye development genes and known syndromes
Anne M. Slavotinek
MOLECULAR GENETICS AND METABOLISM (2011)
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes
Mika Asai-Coakwell et al.
HUMAN MOLECULAR GENETICS (2009)
Seeing Clearly: The Dominant and Recessive Nature of FOXE3 in Eye Developmental Anomalies
Sibel Ugur Iseri et al.
HUMAN MUTATION (2009)
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome
May Tassabehji et al.
HUMAN MUTATION (2008)
Anophthalmia and microphthalmia
Amit S. Verma et al.
ORPHANET JOURNAL OF RARE DISEASES (2007)
Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement
Nicolas Chassaing et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans
Sophie Valleix et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome
KA Williamson et al.
HUMAN MOLECULAR GENETICS (2006)
PAX6 mutations: genotype-phenotype correlations
I Tzoulaki et al.
BMC GENETICS (2005)
SOX2 anophthalmia syndrome
NK Ragge et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts
EV Semina et al.
HUMAN MOLECULAR GENETICS (2001)
分享论文
