NBME 20 Heterozygous mutation in the ankyrin gene (NBME Answers)

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NBME 20 Answers

nbme20/Block 3/Question#11 (reveal difficulty score)
A 3-year-old boy is brought to the physician ...
Heterozygous mutation in the ankyrin gene 🔍 / 📺 / 🌳 / 📖
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+14 upvote downvote
submitted by ∗nala_ula(127)

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Teh liogyohst si of oehsecryspt lmlas( lpsaerhci llesc w/o nrltcea llp)ra.o riateyHrde hscrpsisyotoe is edu ot etfecd ni rsnotipe nainttrigce wthi CBR enmrameb kelnsoet adn lmpaas erbamemn ,kyinnr(a ndab 3, rtoipne 4,2. c.spnri)te Mlyost oamatlous amdnonit tniareinceh os( sheeozutygor uoamttin esicn yuo lyon eedn one ttuanm elllea ot teg het eeai.ds)s

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wuagbe To dad ot sit:h ohyugzsoom SH tenerpss wiht shmyleios vene in ensabce of rseor.ssts ihst pinatte si yonl reensgptin wiht plae ,kisn and teher rea no csshtoytiecs on the ilrrpepeah r,asme os 'sit a rutegeyozohs raynkni imttun.oa +9

pg32 I etwand ot ickp reiydhraet chpsrysoiotes utb eth amne calurrusocp otninnocracte asw moanrl nad I hguhott ti saw spoupsde ot be ele?detav los,A ywh ear hrete so amny sCBR atht aer ywa giberg anht eth oeyrth?cessp +8

nephroguy I'm saugmnsi htta eht CMC si nrmoal csaebeu teh apiettn is rthugyoszeoe rof S.H toN rsue fi shit si ct,rreco but atth swa my uoghhtt opescrs +1

draykid Aer ereht yan aesrpp atth xpienla the eefncrfide ni roisnepxes of yhozsuomog vs tueoehsrgoyz ?HS +25

waterloo I otdn' nkwo if taht mrsatet as cumh, ikel the hppeynote ieernefdfc of msozoyhoug ro hgyozoretuse for tsih sqn.teoui iSnce uyo lyon need neo llaele to shwo i,hst ylap sd.od Is he oerm yeklil to vahe AA or .aA taTh asw ym hgotuht pcsreso. oAsl fi ouy ese ysscproeteh dyo'u be ggnoi ofr knniyra itgh,r tno glbnoBi- bc taht hludso be atgret csell - aerslrgsed of C.HCM +1

alimd as I errbmeme DA are aslywa uor.geyhzste sacueBe hmozouogsy aer swyaal .eahltl +5

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+4 upvote downvote
submitted by xw1984(8)

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I tog hist Q ngrow. I was dgewinnor ywh itsh ttaiepn has“ on peranols or ifylam .iosytr”h daeeiyHrtr toyseihrscosp doslhu be a DA iadsese, os, grelaynle gnka,spei shti izd lsdouh be seen in chea oigrnta,nee ih?rgt

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step1soon I was tiighnkn the sema! +

wuagbe eSeralv gtescein stqsieuon on N0MEB2 eprapa to be tnrigy ot trhow us ffo yb nggnhiac eht dnicpositesr of hrniitceea,n anlegiv su to umesas cpnmtieelo e,entprcane s.mh +

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+3 upvote downvote
submitted by ∗dr_jan_itor(87)

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Cna nynaoe aswern why tshi oen a'ntc eb F. eaBt iametalhas amjo?r I asw hnktnigi cuaeseb fo ish maenai and teh pua"oreen nscde"et hicwh edcsnlui the ntnaieraeidm su.peeanor lsnUes EMBN errswti nikth hatt ornpueea ylno maesn eht soen hiwt reaxt ethiw eplpoe lol

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dickass epEaronu imselip ernotnrh enpoerau ey(th evne csfeiiped het peiatnt asw a spreon fo aoll),rp rmeadnnteeira ncedtes is lsuyalu dilepim yb yotcunr fo oiinrg ro by rtit-tsaouhg tnwrgii ernnitedr'me.'aa +

poisonivy The VMC si a,lmnor tmiheassaasl are criicyctom ai,nemas htta hint hpsel ot luer out the s.aselsiaahmt vwr,Hoee I got ti nrwgo, nto seur ywh it ntcona be a ugmohsozyo mnutoati ni hte raknyin neeg +2

adong siinov@opy, retoh oertcemnm neoipdt uot 'sti umaltaoso nomdaitn os btes rasewn olwud eb esyutoogrehz +

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+2 upvote downvote
submitted by ∗victor_abdullatif(10)

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I tnhki the yke ot sthi tsnioque si ot seu eonaiinmlit rfo afcts ttah we wkno fro ur.se ehT rifst is htat s'ti a mycrotoinc aaienm, so lla aetslsmaahsi rae lreu uot neisc alth = octrc.yicim

Taht saeelv A nda .D cniSe eht CMHC si aornlm icwh(h si nto hawt we wludo cpetxe orf ardrtiehye ytssihc)epsoro nad hte nttip'ase mtymossp aer seve,re hyet umst ehva a lri"e"md iserovn fo hte iedsase ..eg( lashidcoaaropn si lsao tlasoouam intnoadm dan si atllhe fi yuo etg eht ygooomszuh ro)mf.

usbiloyOv oems ibg sepla in roegiasnn hree tub 'ttahs eon phta ot het ihgrt snwaer

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victor_abdullatif dtie :#1 emda a p.yot tmena ot sya te"h aitp'etns mmptoyss rea NOT svr" eeorseyr atbuo att!h +

l0ud_minority eYs I no'dt rtasnddeun hwy teh HMCC is armonl atth is lslti ton whta is xeep.cetd I hswi BNME odpverdi swaenr kyse nda tcied rtehi osrecsu ofr hiret e.tainrloa +

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+1 upvote downvote
submitted by sciguy(1)

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SH si ooautaslm dnnmotia, btu iisthexb oiecmpletn .neprtcanee So he dah on rdecor fo olrnspea fli,amy ubt litls likyel sgro.hueytez

(aiWe)kipid hTe iainlclc eisyrtve fo SH reavis mofr r-myesetompf rrecari ot rsveee iheossylm sceaebu hte sriedrod btsihixe mopecleitn rtceeaenpn in sti oseerpx.nis

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ibestalkinyo isTh is athw wthre me o;ff I gieurfd hiwt 2 eenfftcaud an,psetr is't orme lyklie eh ahd na ostaauolm iecvrssee tmoit.anu +1

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+0 upvote downvote
submitted by ∗strugglebus(189)

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Auot dmo aseisde are lalyusu syoozgehetru or( so thye tnaw su ot seusma)

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xxabi woH do you kwon si motsaloua ?tnoidnma +3

scpomp Hreerydait oprhsoicstyse +1

fshowon nstI het nema rpacuosucrl heilmngoob eainrccnotton idrsencea in riocspetsohsy? saTth atwh touhhrg me fo.f +5

charcot_bouchard eys, wdoul eb cin ni repv NMBE. tBu shit si saihtbt nebm 02. U veah to dyifietn sptroheeysc iotwhtu tnlraec plarol ni BPF +4

charcot_bouchard eys, dolwu be nic ni prev M.NEB tuB sith is thatsbi mnbe 2.0 U avhe to eyditnif peerhtsysoc uihtwto nlatecr lrploa ni BFP +

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+0 upvote downvote
submitted by ∗sunnyside(2)

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naC noeany usjtiyf why yteh ddi not ecsrbdie an ndeisaerc M?HCC FA 9120 syas pcrtssheyioso sha ghhi CHMC, dna heyt ddi ont enve ehva ti no hte reupp den of lm.raon

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