Kohlschütter-Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity

Human Mutation

Volumn 34, Issue 2, 2013, Pages 296-300

  Tucci, Arianna ^a   Kara, Eleanna ^a   Schossig, Anna ^b   Wolf, Nicole I ^c   Plagnol, Vincent ^d   Fawcett, Katherine ^a   Paisán Ruiz, Coro ^e   Moore, Matthew ^f   Hernandez, Dena ^f   Musumeci, Sebastiano ^g   Tennison, Michael ^h   Hennekam, Raoul ⁱ   Palmeri, Silvia ^j   Malandrini, Alessandro ^j   Raskin, Salmo ^k   Donnai, Dian ^l   Hennig, Corina ^m   Tzschach, Andreas ⁿ   Hordijk, Roel ^o   Bast, Thomas ^p   Wimmer, Katharina ^b   Lo, Chien Ning ^a   Shorvon, Simon ^a   Mefford, Heather ^q   Eichler, Evan E ^r   Hall, Roger ^s   Hayes, Ian ^t   Hardy, John ^a   Singleton, Andrew ^f   Zschocke, Johannes ^a   Houlden, Henry ^a   more..

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^f NATIONAL INSTITUTES OF HEALTH   (United States)

^g OASI RESEARCH INSTITUTE IRCCS   (Italy)

^h UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

ⁱ ACADEMIC MEDICAL CENTER   (Netherlands)

^j UNIVERSITY OF SIENA   (Italy)

^k PONTIFICAL CATHOLIC UNIVERSITY OF PARANÁ   (Brazil)

^l UNIVERSITY OF MANCHESTER   (United Kingdom)

^m Mitteldeutscher Praxisverbund Humangenetik   (Germany)

ⁿ UNIVERSITY OF TÜBINGEN   (Germany)

^o UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^p Epilepsy Centre Kork   (Germany)

^q UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^r HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^s ROYAL CHILDREN'S HOSPITAL   (Australia)

^t UNIVERSITY OF MELBOURNE   (Australia)

more..

Author keywords

Amelogenesis imperfecta; Epilepsy; Kohlsch tter T nz; ROGDI

Indexed keywords

BIOLOGICAL MARKER; ROGDI PROTEIN; UNCLASSIFIED DRUG;

AMELOGENESIS IMPERFECTA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BENIGN CHILDHOOD EPILEPSY; CHROMOSOME 16; EXOME; EXON; FEMALE; GENE SEQUENCE; GENETIC HETEROGENEITY; HUMAN; KOHLSCHUTTER TONZ SYNDROME; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; RARE DISEASE;

AMELOGENESIS IMPERFECTA; CHILD, PRESCHOOL; DEMENTIA; EPILEPSY; EXOME; FEMALE; GENE DELETION; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MUTATION; NUCLEAR PROTEINS; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA;

EID: 84873079203     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22241     Document Type: Article

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