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Microphthalmos

Known as: Simple microphthalmos, Microphthalmia, Microphthalmos [Disease/Finding] 
A congenital abnormality characterized by the presence of an abnormally small eye globe.
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2019
Review
2019
Targeted therapy and immunotherapy have greatly improved the prognosis of patients with metastatic melanoma, but resistance to… Expand
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Review
2017
Review
2017
The microphthalmia family (MITF, TFEB, TFE3, and TFEC) of transcription factors is emerging as global regulators of cancer cell… Expand
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Highly Cited
2012
Highly Cited
2012
The nuclear translocation of a transcription factor that promotes lysosomal biogenesis is inhibited when lysosomal function is… Expand
Highly Cited
2010
Highly Cited
2010
BACKGROUND The National Birth Defects Prevention Network collects state-specific birth defects surveillance data for annual… Expand
Highly Cited
2005
Highly Cited
2005
Systematic analyses of cancer genomes promise to unveil patterns of genetic alterations linked to the genesis and spread of human… Expand
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Review
2000
Review
2000
Compelling evidence has been gathered indicating that pro-opiomelanocortin peptides, alpha-melanocyte stimulating hormone (alpha… Expand
Highly Cited
1999
Highly Cited
1999
We report the isolation and identification of a new mutation affecting pigment cell fate in the zebrafish neural crest… Expand
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Highly Cited
1998
Highly Cited
1998
Germline mutations at loci encoding the transcription factor Microphthalmia (Mi), the cytokine receptor c-Kit, or its ligand… Expand
Highly Cited
1994
Highly Cited
1994
Waardenburg syndrome type 2 (WS2) is a dominantly inherited syndrome of hearing loss and pigmentary disturbances. We recently… Expand
Highly Cited
1993
Highly Cited
1993
Mice with mutations at the microphthalmia (mi) locus have some or all of the following defects: loss of pigmentation, reduced eye… Expand