Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders.

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作者： Orazio,Palumbo ^[1] ; Maria,Accadia ^[2] ; Pietro,Palumbo ^[1] ; Maria Pia,Leone ^[3] ; Antonio,Scorrano ^[4] ; Teresa,Palladino ^[1] ; Raffaella,Stallone ^[1] ; Maria Clara,Bonaglia ^[5] ; Massimo,Carella ^[6]

作者单位： Division of Medical Genetics, Poliambulatorio "Giovanni Paolo II", IRCCS Casa Sollievo della Sofferenza, Viale Padre Pio, 71013 San Giovanni Rotondo, FG, Italy. ^[1] Medical Genetics Service, Hospital "Cardinale G. Panico", Via San Pio X n°4, 73039 Tricase, LE, Italy. ^[2] Division of Medical Genetics, Poliambulatorio "Giovanni Paolo II", IRCCS Casa Sollievo della Sofferenza, Viale Padre Pio, 71013 San Giovanni Rotondo, FG, Italy; Department of Soil, Plant and Food Science, University of Bari "Aldo Moro", Via Amendola 165/A, 70126 Bari, Italy. ^[3] Pediatrics and Neonatology Unit, Hospital "Cardinale G. Panico", Via San Pio X n°4, 73039 Tricase, LE, Italy. ^[4] Cytogenetic Laboratory, Scientific Institute ''Eugenio Medea'', via Don Luigi Monza 20, 23842 Bosisio Parini, LC, Italy. ^[5] Division of Medical Genetics, Poliambulatorio "Giovanni Paolo II", IRCCS Casa Sollievo della Sofferenza, Viale Padre Pio, 71013 San Giovanni Rotondo, FG, Italy. Electronic address: m.carella@operapadrepio.it. ^[6]

关键词 7p22.1 microdeletion ACTB Chromosomal microarray analysis