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#
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#AutosomalRecessive
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Prkash Mishra
Prkash Mishra
@iprkashmishra.bsky.social
1 month ago
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Phenylketonuria (PKU)
#Phenylketonuria #PKU #MetabolicDisorder #AutosomalRecessive #GeneticDisorder #iPrkashMishra #NewbornScreening #GuthrieTest #Hyperphenylalaninemia #PediatricHealth #LowProteinDiet #Sapropterin #MaternalPKU #MedicalEducation #NursingNotes

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Genetics in Medicine Open
Genetics in Medicine Open
@gimopenjournal.bsky.social
7 months ago
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Complex genetic landscape of familial #chylomicronaemia syndrome revealed in the UK population, with regional and ethnic variation and nearly half of FCS cases linked to non-LPL genes. bit.ly/3JjesT0 #GIMO #Hypertriglyceridaemia #AutosomalRecessive

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Genetics in Medicine
Genetics in Medicine
@gimjournal.bsky.social
1 year ago
Screenshot of Figure 1 Heterozygote PGV frequencies and risks of autosomal recessively affected pregnancies for cancer CPGs. A. Bar plot showing heterozygote PGV frequencies in the gnomAD database for pathogenic germline variants (PGVs) in autosomal dominantly inherited cancer predisposition genes (CPGs) across 8 ethnicities.

Screenshot of Figure 1 Heterozygote PGV frequencies and risks of autosomal recessively affected pregnancies for cancer CPGs. A. Bar plot showing heterozygote PGV frequencies in the gnomAD database for pathogenic germline variants (PGVs) in autosomal dominantly inherited cancer predisposition genes (CPGs) across 8 ethnicities.

More than meets the eye! Pathogenic germline variants in #cancer predisposition genes may lead to increased risk for life-limiting diseases in offspring bit.ly/3WCNYzH #reproductivecarrierscreening #autosomalrecessive #autosomaldominant

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