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searching for Skewed X-inactivation 13 found (24 total)

Klinefelter syndrome (4,450 words) [view diff] no match in snippet view article find links to article

Klinefelter syndrome (KS), also known as 47,XXY, is a chromosome anomaly where a boy or man has an extra X chromosome. As the presence of a Y chromosome

X-linked myotubular myopathy (355 words) [view diff] exact match in snippet view article find links to article

severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation". Neuromuscul Disord. 13 (1): 55–9. doi:10.1016/S0960-8966(02)00194-3

FRMD7 (672 words) [view diff] no match in snippet view article find links to article

1674–9. PMID 17893669. Kaplan Y, Vargel I, Kansu T, et al. (2008). "Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G,

Börjeson–Forssman–Lehmann syndrome (716 words) [view diff] exact match in snippet view article find links to article

males, however females can be affected, particularly if they have skewed X-inactivation. As of 2022, a patient advocate group BFLS Inc is forming a patient

Pyruvate dehydrogenase (lipoamide) alpha 2 (1,599 words) [view diff] no match in snippet view article

harder to detect. This is because of the chance that there will be a skewed X inactivation pattern enzyme measurement in fibroblasts, meaning that the enzyme

ATR-X syndrome (1,149 words) [view diff] case mismatch in snippet view article find links to article

similar phenotypes. The phenotypes resulting from ATR-X are due to skewed x-inactivation. When X-inactivation occurs randomly, half of the cells in the carrier

Sideroblastic anemia (1,746 words) [view diff] exact match in snippet view article find links to article

X-linked, approximately one third of patients are women due to skewed X-inactivation (lyonizations). Autosomal recessive sideroblastic anemia involves

Centronuclear myopathy (2,357 words) [view diff] exact match in snippet view article find links to article

due to a mutation in the myotubularin (MTM1) gene and extremely skewed X-inactivation (H&E stain, transverse section). Note marked variability in fibre

Pyruvate dehydrogenase (lipoamide) alpha 1 (2,885 words) [view diff] no match in snippet view article

harder to detect. This is because of the chance that there will be a skewed X inactivation pattern enzyme measurement in fibroblasts, meaning that the enzyme

Wilson–Turner syndrome (2,203 words) [view diff] exact match in snippet view article find links to article

sorted from unmethylated DNA with PCR. Carrier females will show skewed X-inactivation pattern (skewing close to 100%) with the mutated allele inactivated

GATA1 (5,532 words) [view diff] no match in snippet view article find links to article

macrothrombocytopenia and anemia and are associated with variable skewed X inactivation" (PDF). Human Molecular Genetics. 11 (2): 147–52. doi:10.1093/hmg/11

Ocular albinism late onset sensorineural deafness (2,292 words) [view diff] exact match in snippet view article find links to article

inactivation. Those with more advanced ocular manifestations due to skewed X-inactivation have reported reduced visual acuity and nystagmus. Despite the fact

Androgen insensitivity syndrome (12,440 words) [view diff] exact match in snippet view article find links to article

body hair, delayed puberty, and/or tall stature, presumably due to skewed X-inactivation. A female carrier will pass the affected AR gene to her children