microphthalmia
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Migraine Meds Not Approved, FDA Says
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mitochondrial disease
Vacuum cleaner magnate David Oreck tells a crowd at BSC that it's all about building a brand
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myotonic dystrophy
UB research receives NYSTAR funding
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nail-patella syndrome
Group promotes proposal to OK medical marijuana
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American College of Medical Genetics -- 2007 Annual Clinical Genetics Meeting Announcement
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osteogenesis imperfecta
United Press International ® News. Analysis. Insight.™
UPI - Feb 12 10:50 AM BETHESDA, Md., Feb. 12 (UPI) -- U.S. scientists say they've identified a new form of a brittle bone disorder and have determined the genetic defect that underlies osteogenesis imperfecta.
pallister-hall syndrome
The Histopathology of Hypothalamic Hamartomas: Study of 57 Cases
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Rare genetic condition plagues Owensboro boy
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Vail Trail - Feb 21 4:12 PM Yawning Yawning is an involuntary action that causes us to open our mouths wide and breathe in deeply. No one knows for sure why we yawn, but there are some interesting theories. One states that yawning is physiological: We yawn to draw in more oxygen or remove a build-up of carbon dioxide.
polycystic kidney disease
AVI BioPharma Presents Novel HIV Drug Candidate Results
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polydactyly
The Histopathology of Hypothalamic Hamartomas: Study of 57 Cases
RedNova - Feb 20 1:11 AM By Coons, Stephen W; Rekate, Harold L; Prenger, Erin C; Wang, Norman; Et al Abstract Hypothalamic hamartomas (HHs) are rare developmental tumors that cause seizures or pituitary axis dysfunction, usually beginning in childhood.
porphyria
UTMB researchers focus on porphyrias
Galveston County Daily News - 8 minutes ago GALVESTON — Porphyrias haven’t captured the imagination of many young medical researchers. This is because support to train porphyria experts has been lacking. That’s not a good thing for those who suffer from the rare and often painful disorders.
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microphthalmia
Microphthalmia means small eyes. In mammals the failure of expression of a transcription factor, MITF (microphthalmia-associated transcription factor), in the pigmented retina prevents this structure from fully differentiating. This in turn causes a malformation of the choroid fissure of the eye, resulting in the drainage of vitreous humor fluid. Without this fluid, the eye fails to enlarge, thus the name microphthalmia. [1]
The gene encoding the microphthalmia-associated transcription factor (Mitf) is a member of the basic helix-loop-helix-leucine zipper (bHLH-ZIP) family. Waardenburg syndrome type 2 (WS type 2) in humans is also a type of microphthalmia syndrome. Mutations in MITF gene are thought to be responsible for this syndrome. The human MITF gene is homologous to the mouse MITF gene (aka mouse mi or microphthalmia gene); mouse with mutations in this gene are hypopigmented in their fur. The identification of the genetics of WS type 2 owes a lot to observations of phenotypes of MITF mutant mice.
Microphthalmia in newborns is also associated with infections during pregnancy, particularly rubella and cytomegalovirus (CMV), and trisomy 13 ( Patau syndrome). In addition, microphthalmia may also be a result of Fetal Alcohol Spectrum Disorder (FASD).
Search Term: "Microphthalmia"
Category: Genetic disorders
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