Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia

Scientific Reports

Volumn 5, Issue , 2015, Pages

  Royer Bertrand, Beryl ^a,b   Castillo Taucher, Silvia ^c   Moreno Salinas, Rodrigo ^d,e   Cho, Tae Joon ^f   Chae, Jong Hee ^f   Choi, Murim ^f   Kim, Ok Hwa ^g   Dikoglu, Esra ^b   Campos Xavier, Belinda ^b   Girardi, Enrico ^h   Superti Furga, Giulio ^h   Bonafe, Luisa ^b   Rivolta, Carlo ^a   Unger, Sheila ^b   Superti Furga, Andrea ^b  

^a UNIVERSITY OF LAUSANNE   (Switzerland)

^b LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^c Sección Citogenética   (Chile)

^d Hospital Regional Rancagua   (Chile)

^e UNIVERSITY OF CHILE   (Chile)

^f Seoul National University   (South Korea)

^g Woorisoa Children s Hospital   (South Korea)

^h ERICH SCHMID INSTITUTE OF MATERIALS SCIENCE   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

HEAT SHOCK PROTEIN 70; HSPA9 PROTEIN, HUMAN; MITOCHONDRIAL PROTEIN;

BONE DYSPLASIA; DIAGNOSTIC IMAGING; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDY; GENETICS; HUMAN; MISSENSE MUTATION; MULTIPLE MALFORMATION SYNDROME; MUSCULOSKELETAL SYSTEM MALFORMATION; PRESCHOOL CHILD; RADIOGRAPHY; SYNDROME;

ABNORMALITIES, MULTIPLE; BONE DISEASES, DEVELOPMENTAL; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; HSP70 HEAT-SHOCK PROTEINS; HUMANS; MITOCHONDRIAL PROTEINS; MUSCULOSKELETAL ABNORMALITIES; MUTATION, MISSENSE; RADIOGRAPHY; SYNDROME;

EID: 84948165668     PISSN: None     EISSN: 20452322     Source Type: Journal    
DOI: 10.1038/srep17154     Document Type: Article

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