Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.
Ann E FrazierAlison G ComptonYoshihito KishitaDaniella H HockAnneMarie E WelchSumudu S C AmarasekeraRocio RiusLuke E FormosaAtsuko Imai-OkazakiDavid FrancisMin WangNicole J LakeSimone TregoningJafar S JabbariAlexis LucattiniKazuhiro R NittaAkira OhtakeKei MurayamaDavid J AmorGeorge McGillivrayFlora Y WongMarjo S van der KnaapR Jeroen VermeulenEsko J WiltshireJanice M FletcherBarry LewisGareth BaynamCarolyn EllawayShanti BalasubramaniamKaustuv BhattacharyaMary-Louise FreckmannSusan ArbuckleMichael RodriguezRyan J TaftSimon SadedinMark J CowleyAndré E MinocheSarah E CalvoVamsi K MoothaMichael T RyanYasushi OkazakiDavid A StroudCas SimonsJohn ChrisodoulouDavid R ThorburnPublished in: Med (New York, N.Y.) (2020)
Australian NHMRC, US Department of Defense, Japanese AMED and JSPS agencies, Australian Genomics Health Alliance and Australian Mito Foundation.