Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)

American Journal of Medical Genetics, Part A

Volumn 164, Issue 7, 2014, Pages 1802-1807

  Ferreira, Carlos ^a   Poretti, Andrea ^b   Cohen, Julie ^c   Hamosh, Ada ^b   Naidu, Sakkubai ^c  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c KENNEDY KRIEGER INSTITUTE   (United States)

Author keywords

Hypomyelination with atrophy of the basal ganglia and cerebellum; TUBB4A; Tubulin beta 4

Indexed keywords

BACLOFEN; CARBIDOPA PLUS LEVODOPA; GLYCINE; TRIHEXYPHENIDYL; TUBB4A PROTEIN, HUMAN; TUBULIN;

ARTICLE; ASPIRATION PNEUMONIA; BASAL GANGLION; BRAIN ATROPHY; CASE REPORT; CELIAC DISEASE; CEREBELLUM; CEREBROSPINAL FLUID ANALYSIS; CONGENITAL HEART DISEASE; DEMYELINATION; DIVERGENT STRABISMUS; DYSKINESIA; DYSPHAGIA; EYE MOVEMENT DISORDER; FEMALE; GENE; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; INTESTINE BIOPSY; LANGUAGE DISABILITY; MALE; MUSCLE RIGIDITY; NEUROIMAGING; NYSTAGMUS; PHENOTYPE; PRIORITY JOURNAL; RESPIRATORY ARREST; SPASTICITY; SPEECH DISORDER; STOMACH TUBE; TENOTOMY; TRACHEOMALACIA; TRACHEOSTOMY; TUBB4A GENE; WALKING DIFFICULTY; ATROPHY; CHILD; DNA SEQUENCE; FOLLOW UP; GENETICS; HEREDODEGENERATIVE DISORDERS, NERVOUS SYSTEM; HETEROZYGOTE; INFANT; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY;

ATROPHY; BASAL GANGLIA; CEREBELLUM; CHILD; FEMALE; FOLLOW-UP STUDIES; HEREDODEGENERATIVE DISORDERS, NERVOUS SYSTEM; HETEROZYGOTE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NEUROIMAGING; PHENOTYPE; SEQUENCE ANALYSIS, DNA; TUBULIN;

EID: 84902536064     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36526     Document Type: Article

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