SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

American Journal of Human Genetics

Volumn 82, Issue 4, 2008, Pages 1003-1010

  Gilfillan, Gregor D ^a   Selmer, Kaja K ^a   Roxrud, Ingrid ^b   Smith, Raffaella ^c   Kyllerman, Mårten ^d   Eiklid, Kristin ^a   Kroken, Mette ^a   Mattingsdal, Morten ^a   Egeland, Thore ^a   Stenmark, Harald ^b   Sjøholm, Hans ^a   Server, Andres ^a   Samuelsson, Lena ^e   Christianson, Arnold ^f   Tarpey, Patrick ^c   Whibley, Annabel ^g   Stratton, Michael R ^c   Futreal, P Andrew ^c   Teague, Jon ^c   Edkins, Sarah ^c   Gecz, Jozef ^h   Turner, Gillian ⁱ   Raymond, F Lucy ^g   Schwartz, Charles ^j   Stevenson, Roger E ^j   Undlien, Dag E ^a   Strømme, Petter ^a   more..

^a ULLEVÅL UNIVERSITY HOSPITAL   (Norway)

^b OSLO UNIVERSITY HOSPITAL   (Norway)

^c WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^d QUEEN SILVIA CHILDREN'S HOSPITAL   (Sweden)

^e SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^f UNIVERSITY OF THE WITWATERSRAND   (South Africa)

^g UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^h WOMEN S AND CHILDREN S HOSPITAL   (Australia)

ⁱ UNIVERSITY OF NEWCASTLE   (Australia)

^j GREENWOOD GENETIC CENTER   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM PROTON EXCHANGE PROTEIN;

ADULT; ARTICLE; ATAXIA; CHRISTIANSON SYNDROME; DNA SEQUENCE; EPILEPSY; GENE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENETIC LINKAGE; HAPPY PUPPET SYNDROME; HUMAN; MALE; MICROCEPHALY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SLC9A6 GENE; X LINKED MENTAL RETARDATION;

EID: 41549149493     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2008.01.013     Document Type: Article

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