De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia

Journal of Medical Genetics

Volumn 54, Issue 2, 2017, Pages 93-99

  Berko, Esther R ^a   Cho, Megan T ^b   Eng, Christine ^c   Shao, Yunru ^c,d   Sweetser, David A ^e   Waxler, Jessica ^e   Robin, Nathaniel H ^f   Brewer, Fallon ^f   Donkervoort, Sandra ^g   Mohassel, Payam ^g   Bönnemann, Carsten G ^g   Bialer, Martin ^h   Moore, Christine ^h   Wolfe, Lynne A ⁱ   Tifft, Cynthia J ⁱ   Shen, Yufeng ^a   Retterer, Kyle ^b   Millan, Francisca ^b   Chung, Wendy K ^a  

^a NewYork Presbyterian Hospital   (United States)

^b GENEDX   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d TEXAS CHILDREN S HOSPITAL   (United States)

^e MASSACHUSETTS GENERAL HOSPITAL   (United States)

^f UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^g NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^h Northwell Health   (United States)

ⁱ NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EIF2B2 PROTEIN; HECW2 PROTEIN; PROTEIN; UNCLASSIFIED DRUG; VESICULAR GLUTAMATE TRANSPORTER 1; HECW2 PROTEIN, HUMAN; P73 PROTEIN, HUMAN; TUMOR PROTEIN P73; UBIQUITIN PROTEIN LIGASE;

ABNORMAL BEHAVIOR; AGGRESSION; ALGORITHM; ALLELE; ARTICLE; ATAXIC GAIT; AUTISM; AUTOMUTILATION; BRAIN ATROPHY; BRAIN VENTRICLE DILATATION; CARDIOMYOPATHY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CODON; COHORT ANALYSIS; COMPULSION; CONSTIPATION; EEG ABNORMALITY; FACE DYSMORPHIA; FEEDING DIFFICULTY; FEMALE; HAPPY PUPPET SYNDROME; HUMAN; HYPOGLYCEMIA; HYPOTHERMIA; INFANTILE SPASM; INTELLECTUAL IMPAIRMENT; INTRAUTERINE GROWTH RETARDATION; KYPHOSIS; MALE; MENTAL DISEASE; MICROARRAY ANALYSIS; MISSENSE MUTATION; MONOZYGOTIC TWINS; MUSCLE HYPOTONIA; NERVE CELL DIFFERENTIATION; NERVOUS SYSTEM DEVELOPMENT; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PAIN THRESHOLD; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SANGER SEQUENCING; SCHOOL CHILD; SEIZURE; SPEECH DISORDER; STOMACH PARESIS; STOMACH TUBE; STRABISMUS; SYNAPTIC TRANSMISSION; THETA RHYTHM; TONIC CLONIC SEIZURE; TONIC SEIZURE; VISUAL IMPAIRMENT; WHOLE EXOME SEQUENCING; EXOME; GENETICS; HIGH THROUGHPUT SEQUENCING; PATHOLOGY;

CHILD; CHILD, PRESCHOOL; EXOME; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INTELLECTUAL DISABILITY; MALE; MUSCLE HYPOTONIA; MUTATION, MISSENSE; NEURODEVELOPMENTAL DISORDERS; TUMOR PROTEIN P73; UBIQUITIN-PROTEIN LIGASES;

EID: 84978834467     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2016-103943     Document Type: Article

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