Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome

Annals of Neurology

Volumn 76, Issue 4, 2014, Pages 581-593

  Pescosolido, Matthew F ^a,b   Stein, David M ^a   Schmidt, Michael ^a   El Achkar, Christelle Moufawad ^c   Sabbagh, Mark ^a   Rogg, Jeffrey M ^b   Tantravahi, Umadevi ^b   McLean, Rebecca L ^b   Liu, Judy S ^d   Poduri, Annapurna ^c   Morrow, Eric M ^a,b  

^a BROWN UNIVERSITY   (United States)

^b BROWN UNIVERSITY   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

SLC9A6 PROTEIN, HUMAN; SODIUM PROTON EXCHANGE PROTEIN;

ADOLESCENT; ATAXIA; AUTISTIC DISORDER; BRAIN; CHILD; COMPLICATION; DEVELOPMENTAL DISORDER; DISEASE COURSE; ELECTROENCEPHALOGRAPHY; EPILEPSY; EYE MOVEMENT DISORDER; FEMALE; GENETICS; GENOTYPE; GROWTH, DEVELOPMENT AND AGING; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MICROCEPHALY; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PHENOTYPE; PRESCHOOL CHILD; REGRESSION ANALYSIS; X CHROMOSOME LINKED DISORDER; YOUNG ADULT;

ADOLESCENT; ATAXIA; AUTISTIC DISORDER; BRAIN; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; DISEASE PROGRESSION; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; GENETIC DISEASES, X-LINKED; GENOTYPE; HUMANS; INTELLECTUAL DISABILITY; MAGNETIC RESONANCE IMAGING; MALE; MICROCEPHALY; MUTATION; OCULAR MOTILITY DISORDERS; PHENOTYPE; REGRESSION ANALYSIS; SODIUM-HYDROGEN ANTIPORTER; YOUNG ADULT;

EID: 84907809444     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24225     Document Type: Article

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