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More common than Turner's syndrome, where only one X chromosome is present, X-trisomy usually remains undetected because affected individuals appear normal, experience puberty, and are usually fertile.
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"[In] many individuals who clinically appear normal when we perform extensive batteries of neuropsychological and cognitive tests, when we use these biomarker tests, we see extensive brain damage," he says.
Individuals with FOP appear normal at birth except for great toe abnormalities; these being short, deviated and later monophalangic.
"The most dangerous adversaries will be the ones who most successfully disguise their individual transactions to appear normal, reasonable, and legitimate," Ted Senator, a data scientist who worked on an early post-9/11 program called Total Information Awareness, said, in 2002.
This prediction is further supported by the observation that individuals lacking functioning Nav1.7 are appear normal except for their insensitivity to pain and anosmia.
As a group, individuals with a TINF2 mutation have shorter telomeres than others with known mutations, but their TERC accumulation levels appear normal.
So I'll appear normal?
In other words, everything will appear normal.
Oral mucosa should appear normal with normal sensory testing [1].
Mouse embryos heterozygous for the null allele, Sox2 EGFP), appear normal.
X-rays will appear normal.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com