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Clinodactyly is an autosomal dominant trait that has variable expressiveness and incomplete penetrance. [citation needed] Clinodactyly can be passed through inheritance and presents as either an isolated anomaly or a component manifestation of a genetic syndrome. [2] Many syndromes are associated with clinodactyly, including those listed below.
The pathophysiology of entrapment is complex because nerve tissue has many components (e.g. axon, myelin, endoneurium, perineurium, epineurium, blood vessels, etc) that may respond differently to various stressors affecting nerve function. [5] The underlying mechanism of injury typically starts with interruptions in vascular supply. [2]
PMP22 displays haploinsufficiency, such that the normal copy of the gene's activity is insufficient to compensate for loss of function of the affected copy. [10] PMP22 point mutations , such as the frameshift mutation Gly94fsX222 ( c.281_282insG ), can cause clinical overlap between PNPP and Charcot–Marie–Tooth disease type 1A .
Tethered spinal cord can be caused by various conditions but the main cause is when tissue attachments limit the movement of the spinal cord in the spinal column which causes abnormal stretching of the cord. The tethered spinal cord syndrome is correlated with having the causes: [10] Spina bifida. Occulta; Mylomeningocele; Meningocele
It is caused by mutations in the short-stature homeobox gene found in the pseudoautosomal region PAR1 of the X and Y chromosomes, at band Xp22.33 or Yp11.32. [2]SHOX gene deletions have been identified as the major cause of Leri–Weill syndrome.
Primary ciliary dyskinesia (PCD) is a rare, autosomal recessive genetic ciliopathy, that causes defects in the action of cilia lining the upper and lower respiratory tract, sinuses, Eustachian tube, middle ear, fallopian tube, and flagella of sperm cells. The alternative name of "immotile ciliary syndrome" is no longer favored as the cilia do ...
According to the New York Times, here's exactly how to play Strands: Find theme words to fill the board. Theme words stay highlighted in blue when found.
Cleidocranial dysostosis (CCD), also called cleidocranial dysplasia, is a birth defect that mostly affects the bones and teeth. [1] The collarbones are typically either poorly developed or absent, which allows the shoulders to be brought close together. [1]