Tải bản đầy đủ (.pdf) (3 trang)

Andersons pediatric cardiology 2088

Bạn đang xem bản rút gọn của tài liệu. Xem và tải ngay bản đầy đủ của tài liệu tại đây (60.72 KB, 3 trang )

clinicaldiagnosisinthefirstyearoflife.Mol
Syndromol.2011;1:282–289.
92.PierpointME,MagoulasPL,AdiS,etal.Cardiofacio-cutaneoussyndrome:clinicalfeatures,
diagnosis,andmanagementguidelines.
Pediatrics.2014;134:1149–1162.
93.RauenKA.HRASandthecostellosyndrome.
ClinGenet.2007;71:101–108.
94.CalcagniG,BabanA,LepriFR,etal.Congenital
heartdefectsinnoonansyndromeandRIT1
mutation.GenetMed.2016;18:1320.
95.Ruiz-PerezVL,GoodshipJA.Ellis-vanCreveld
syndromeandWeyersacrodentaldysostosisare
causedbycilia-mediateddiminishedresponseto
hedgehogligands.AmJMedGenet.
2009;151C:341–351.
96.D'AsdiaC,TorrenteI,ConsoliF,etal.Noveland
recurrentEVCandEVC2mutationsinellis-van
CreveldandWeyersacrofacialdysostosis.EurJ
MedGenet.2013;56:80–87.
97.DigilioMC,MarinoB,GiannottiA,etal.The
atrioventricularcanaldefectisthecongenital
heartdiseaseconnectingshort-ribpolydactyly
andoral-facial-digitalsyndromes.AmJMed
Genet.1997;68:110–112.
98.PeoplesWM,MollerJH,EdwardsJE.
Polysplenia:areviewof146cases.Pediatr


Cardiol.1983;4:129–138.
99.ChowdhuryD,WilliamsKB,ChidekelA,etal.
Managementofcongenitalheartdisease


associatedwithellis-vanCreveldshort-rib
thoracicdysplasia.JPediatr.2017;191:145–
151.
100.Caparros-MartinJA,DeLucaA,CartaultF,etal.
SpecificvariantsinWDR35causeadistinctive
formofellis-vanCreveldsyndromeby
disruptingtherecruitmentoftheEvCcomplex
andSMOintothecilium.HumMolGenet.
2015;24:4126–4137.
101.NicetaM,MargiottiK,DigilioMC,etal.
BiallelicmutationsinDYNCH2LI1arearare
causeofellis-vanCreveldsyndrome.Clin
Genet.2017[(online)].
102.PhilipN,MeineckeP,DavidA,etal.Kabuki
make-up(niikawa-kuroki)syndrome:astudyof
16non-Japanesecases.ClinDysmorphol.
1992;1:63–77.
103.KawameH,HannibalMC,HudginsL,etal.
Phenotypicspectrumandmanagementissuesin
kabukisyndrome.JPediatr.1999;134:480–485.
104.Schrander-StumpelC,MeineckeP,WilsonG,et
al.TheKabuki(niikawa-kuroki)syndrome:
furtherdelineationofthephenotypein29nonJapanesepatients.EurJPediatr.1994;153:438–


445.
105.DigilioMC,MarinoB,ToscanoA,etal.
CongenitalheartdefectsinKabukisyndrome.
AmJMedGenet.2001;100:269–274.
106.DigilioMC,GnazzoM,LepriF,etal.Congenital

heartdefectsinmolecularlyprovenKabuki
syndromepatients.AmJMedGenetA.
2017;173:2912–2922.
107.ShoneJD,SellersRD,AndersonRC,etal.The
developmentalcomplexofparachutemitral
valve,supravalvularringoftheleftatrium,
subaorticstenosisandcoarctationoftheaorta.
AmJCardiol.1963;11:714–725.
108.NgSB,BuckinghamKJ,HannibalMC,etal.
ExomesequencingidentifiesMLL2mutations
asacauseofKabukisyndrome.NatGenet.
2010;42:790–793.
109.LedererD,GrisartB,DigilioMC,etal.Deletion
ofKDM6A,ahistonedemethylaseinteracting
withMLL2,inthreepatientswithKabuki
syndrome.AmJHumGenet.2012;90:119–124.
110.BögershausenN,TsaiI-C,PohlE,etal.RAP1mediatedMEK/ERKpathwaydefectsinKabuki
syndrome.JClinInvest.2015;125:3585–3599.
111.LangeL,PagnamentaAT,LiseS,etal.Ade
novoframeshiftinHNRNPKcausingakabukilikesyndromewithnodularheterotopia.Clin



×