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Microphthalmia and mental deficiency

Known as: Colobomatous microphthalmia, Microphthalmia, colobomatous, Microphthalmos, severe mental retardation, and spastic cerebral palsy 
National Institutes of Health

Related topics

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7 relations

Broader (5)

Brain Diseases, Metabolic, InbornCongenital ocular coloboma (disorder)Intellectual DisabilityMicrocephaly
Microphthalmia, Isolated, with Coloboma 4Microphthalmos co-occurrent with congenital ocular coloboma

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2016
Review
2016
Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature
Bosma arhinia microphthalmia syndrome (Bosma syndrome)(OMIM 603457) is a congenital condition characterized by microphthalmia… 
2016
2016
“I wish I'd known”: patients' suggestions for supporting sexual quality of life after diagnosis with metastatic breast cancer
ABSTRACT Research has found that breast cancer and its treatments can have severe consequences for patients' sexual quality of… 
2015
2015
Overlap between CHARGE and Kabuki syndromes: More than an interesting clinical observation?
Kabuki syndrome (OMIM#147920) is a multiple congenital anomalies (MCA) syndrome that is characterized by a distinct facial… 
2014
2014
Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome)
BackgroundKabuki syndrome is a multi-system disorder with peculiar facial features, and ophthalmic abnormalities are frequently… 
2010
2010
Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia
Purpose Microphthalmia and anophthalmia are at the severe end of the spectrum of abnormalities in ocular development. A few genes… 
1995
1995
Hereditary disorders among Iranian Jews.
  • J. Zlotogora
  • American journal of medical genetics
  • 1995
  • Corpus ID: 41895667
Iranian Jews represent an ancient community with a very high degree of inbreeding. Although the community remained relatively… 
Highly Cited
1991
Highly Cited
1991
The prenatal development of the optic fissure in colobomatous microphthalmia.
The coloboma in the cinnamon mouse homozygous for the microphthalmia gene is caused when optic fissure closure, which normally… 
Highly Cited
1987
Highly Cited
1987
Complicated colobomatous microphthalmia in the microphthalmic (mi/mi) mouse.
A study of the development of the eye in the cinnamon mouse, homozygous for the gene for microphthalmia (mi), has shown that the… 
1984
1984
Colobomatous macrophthalmia with microcornea.
The ocular malformation of microcornea, uveal coloboma, high myopia, posterior staphyloma, and macrophthalmia was studied in a… 
Highly Cited
1979
Highly Cited
1979
Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation--a syndrome.
A syndrome consisting of colobomatous microphthalmia, heart disease, abnormalities of the external ear with associated hearing… 
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