HAX1 mutations causing severe congenital neuropenia and neurological disease lead to cerebral microstructural abnormalities documented by quantitative MRI

American Journal of Medical Genetics, Part A

Volumn 152 A, Issue 12, 2010, Pages 3157-3163

  Boztug, Kaan ^a   Ding, Xiao Qi ^a   Hartmann, Hans ^a   Ziesenitz, Lena ^a   Schäffer, Alejandro A ^b   Diestelhorst, Jana ^a   Pfeifer, Dietmar ^c   Appaswamy, Giridharan ^a   Kehbel, Sonja ^a   Simon, Thorsten ^d   Al Jefri, Abdullah ^e   Lanfermann, Heinrich ^a   Klein, Christoph ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c UNIVERSITY OF FREIBURG   (Germany)

^d UNIVERSITY OF COLOGNE   (Germany)

^e KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

Author keywords

Apoptosis; HAX1; Immunodeficiency; Neurodegeneration; Quantitative MRI; Severe congenital neutropenia

Indexed keywords

CELL PROTEIN; GRANULOCYTE COLONY STIMULATING FACTOR; PROTEIN HAX1; UNCLASSIFIED DRUG; VALPROIC ACID;

ADULT; ARTICLE; BRAIN ATROPHY; CEREBRAL PALSY; CHROMOSOME 3; CLINICAL ARTICLE; CONSANGUINITY; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; DISEASE SEVERITY; DYSKINESIA; EPILEPSY; EXON; FAMILY STUDY; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HAPLOTYPE; HEARING LOSS; HOMOZYGOSITY; HUMAN; MALE; MENTAL DEFICIENCY; MOTOR DYSFUNCTION; NEUROLOGIC DISEASE; NEUTROPENIA; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; BRAIN; CASE-CONTROL STUDIES; CHILD; CONSANGUINITY; DEVELOPMENTAL DISABILITIES; EPILEPSY; FEMALE; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING; MUTATION; NERVOUS SYSTEM DISEASES; NEUTROPENIA; PEDIGREE; PHENOTYPE; PROTEIN ISOFORMS; SEVERITY OF ILLNESS INDEX;

EID: 78649673027     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33748     Document Type: Article

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