Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy

Pediatric Neurology

Volumn 50, Issue 6, 2014, Pages 608-611

  Purnell, Shawn M ^a   Bleyl, Steven B ^a   Bonkowsky, Joshua L ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

hypomyelination; leukodystrophy; TUBB4A; whole exome sequencing

Indexed keywords

BETA TUBULIN; IRON; LANSOPRAZOLE; RANITIDINE; TUBB4A PROTEIN; UNCLASSIFIED DRUG; TUBB4A PROTEIN, HUMAN; TUBULIN;

ARTICLE; ARTIFACT; BIOINFORMATICS; BODY POSTURE; BRAIN ATROPHY; BRAIN STEM; CASE REPORT; CAUCASIAN; CEREBELLUM; CORPUS CALLOSUM; DYSPHAGIA; EXOME; EXON; EYE MOVEMENT DISORDER; FEMALE; GASTROESOPHAGEAL REFLUX; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; INFANT; IRON BLOOD LEVEL; LEUKODYSTROPHY; MECONIUM ASPIRATION; MISSENSE MUTATION; MUSCLE HYPOTONIA; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCHAL CORD; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; NYSTAGMUS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; STATIC HYPOMYELINATING LEUKODYSTROPHY; STOMACH TUBE; STRABISMUS; SUPPLEMENTATION; VOCALIZATION; WEIGHT GAIN; BRAIN; GENETICS; LEUKOENCEPHALOPATHIES; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; PHENOTYPE; PRESCHOOL CHILD; PROCEDURES;

BRAIN; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; HUMANS; LEUKOENCEPHALOPATHIES; MAGNETIC RESONANCE IMAGING; MUTATION; PHENOTYPE; TUBULIN;

EID: 84901065534     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2014.01.051     Document Type: Article

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