Created at 3:32 p.m. Aug, 21, 2024
Author: gpommier
Related Note: 1582231891383 2
Rationale for change

Updated this card to more accurately reflect the role of SHOX in the Turner syndrome phenotype. Per AMBOSS, SHOX gene haploinsufficiency (a testing buzzword) is the cause of short stature in Turner syndrome. Previously, this card stated that there was an abnormality in the gene, which is technically incorrect. The gene itself is normal; issues arise because there is only half of the gene product present in cells secondary to X chomosome monosomy.
Source: AMBOSS - https://next.amboss.com/us/article/Wo0PaS?q=shox%20gene#HjcKbc0

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#AK_Other::!AK_UpdateTags::AnKing_Image::AhmedA::Turner_Syndrome #AK_Step1_v12::#UWorld::COMLEX::24919 #AK_Step1_v12::#UWorld::Step::1810 #AK_Step1_v12::#B&B::11_Genetics::02_Genetic_Disorders::06_Turner_and_Klinefelter_Syndromes #AK_Step1_v12::#AMBOSS::E_08Ji #AK_Step1_v12::#Physeo::^physeo_image_update #AK_Other::#AK_Original_Decks::Step_1::Zanki_Step_Decks::Zanki_Reproductive::Reproductive_Pathology #AK_Step1_v12::#Low/HighYield::1-HighYield #AK_Step1_v12::#FirstAid::15_Repro::04_Pathology::01_Sex_chromosome_disorders #PANCE::EOR::PEDS #AK_Step1_v12::#AMBOSS::60ajSQ #AK_Step1_v12::#OME::PreClinical::Biochemistry #AK_Step1_v12::#Bootcamp::Reproduction::01_Fetal_Development::07_Chromosomal_Disorders #AK_Step1_v12::#Physeo::05_Biochem::04_Genetics::21_Sex_Chromosome_Disorders #AK_Other::!AK_UpdateTags::AnKing_Image::!Subjects::Reproductive::Turner_Syndrome #AK_Step1_v12::^Systems::Reproductive::AKadds #AK_Step1_v12::#FirstAid::15_Repro::04_Pathology::01_Sex_chromosome_disorders::02_Turner_syndrome #AK_Step1_v12::#Physeo::05_Biochem::04_Genetics::22_Sex_Chromosome_Disorders_-_Turner_Syndrome #AK_Step1_v12::#AMBOSS::kbamFQ