Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria

Neuromuscular Disorders

Volumn 26, Issue 11, 2016, Pages 744-748

  Ravenscroft, Gianina ^a   Di Donato, Nataliya ^b   Hahn, Gabriele ^c   Davis, Mark R ^d   Craven, Paul D ^e   Poke, Gemma ^f   Neas, Katherine R ^f   Neuhann, Teresa M ^g   Dobyns, William B ^h   Laing, Nigel G ^a,d  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^c UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

^d PATHWEST LABORATORY MEDICINE   (Australia)

^e JOHN HUNTER CHILDREN S HOSPITAL   (Australia)

^f Genetic Health Service   (New Zealand)

^g Medizinisch Genetisches Zentrum   (Germany)

^h SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

Author keywords

Arthrogryposis; BICD2; Fetal akinesia; Perisylvian polymicrogyria

Indexed keywords

AMNIOCENTESIS; ANAMNESIS; APGAR SCORE; APNEA; ARTHROGRYPOSIS; ARTICLE; AUTISM; BICD2 GENE; BILATERAL PERISYLVIAN POLYMICROGYRIA; BIRTH WEIGHT; BODY HEIGHT; BRAIN ATROPHY; BRAIN RADIOGRAPHY; CASE REPORT; CEREBELLUM HYPOPLASIA; CHILD; COGNITIVE DEFECT; CORPUS CALLOSUM AGENESIS; DEATH; DEVELOPMENTAL DISORDER; FEEDING DISORDER; FEMUR FRACTURE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HIP DISLOCATION; HUMAN; INTELLECTUAL IMPAIRMENT; JOINT CONTRACTURE; MACROCEPHALY; MALE; MICROGNATHIA; MICROGYRIA; MOTOR NEUROPATHY; MUSCLE HYPOTONIA; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCULT SPINAL DYSRAPHISM; POSITIVE END EXPIRATORY PRESSURE; PRIORITY JOURNAL; RESPIRATORY FAILURE; RESUSCITATION; TRACHEOTOMY; CORTICAL DYSPLASIA; DIAGNOSTIC IMAGING; FATALITY; GENETICS; INFANT; MULTIPLE MALFORMATION SYNDROME; MUTATION; PHENOTYPE; PRESCHOOL CHILD;

BICD2 PROTEIN, HUMAN; MICROTUBULE ASSOCIATED PROTEIN;

ABNORMALITIES, MULTIPLE; ARTHROGRYPOSIS; CHILD, PRESCHOOL; FATAL OUTCOME; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; MICROTUBULE-ASSOCIATED PROTEINS; MUTATION; PHENOTYPE;

EID: 84991254153     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2016.09.009     Document Type: Article

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