Histology and synchrotron radiation-based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndrome

American Journal of Medical Genetics, Part A

Volumn 152, Issue 3, 2010, Pages 665-673

  Glueckert, Rudolf ^a,b   Rask Andersen, Helge ^d   Sergi, Consolato ^e,f   Schmutzhard, Joachim ^a   Mueller, Bert ^g   Beckmann, Felix ^h   Rittinger, Olaf ^c,i   Hoefsloot, Lies H ⁱ   Schrott Fischer, Anneliese ^a   Janecke, Andreas R ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b UNIVERSITY HOSPITAL INNSBRUCK   (Austria)

^c PARACELSUS MEDICAL UNIVERSITY   (Austria)

^d UPPSALA UNIVERSITY HOSPITAL   (Sweden)

^e MEDICAL UNIVERSITY OF INNSBRUCK   (Austria)

^f UNIVERSITY OF ALBERTA   (Canada)

^g UNIVERSITY OF BASEL   (Switzerland)

^h INSTITUTE OF MATERIALS RESEARCH   (Germany)

ⁱ RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Audiology; CHARGE syndrome; Chromodomain helicase DNA binding protein 7; Histopathology; Inner ear; Synchrotron microtomography

Indexed keywords

CHROMODOMAIN HELICASE DNA BINDING PROTEIN 7; DNA BINDING PROTEIN; HELICASE; UNCLASSIFIED DRUG;

AGENESIS; ARTICLE; BACTEREMIA; CELL MIGRATION; CELL NUCLEUS; CHROMOSOME BANDING PATTERN; COCHLEA; CORTI ORGAN; DNA SEQUENCE; GENE MUTATION; HISTOPATHOLOGY; HUMAN; IMPLANTATION; INTERNAL AUDITORY CANAL; MICRO-COMPUTED TOMOGRAPHY; MORPHOLOGY; PRIORITY JOURNAL; SEMICIRCULAR CANAL; SYNCHROTRON RADIATION; SYNDROME CHARGE; TEMPORAL BONE; VESTIBULE;

ABNORMALITIES, MULTIPLE; COLOBOMA; DNA HELICASES; DNA-BINDING PROTEINS; EAR, INNER; FRAMESHIFT MUTATION; GENITALIA, MALE; HEART DEFECTS, CONGENITAL; HUMANS; IMAGING, THREE-DIMENSIONAL; INFANT; MALE; SYNCHROTRONS; SYNDROME; X-RAY MICROTOMOGRAPHY;

MODIOLUS;

EID: 77649224552     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33321     Document Type: Article

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