Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females

American Journal of Human Genetics

Volumn 99, Issue 3, 2016, Pages 728-734

  Bain, Jennifer M ^a   Cho, Megan T ^b   Telegrafi, Aida ^b   Wilson, Ashley ^a   Brooks, Susan ^c   Botti, Christina ^c   Gowans, Gordon ^d   Autullo, Leigh Anne ^d   Krishnamurthy, Vidya ^e   Willing, Marcia C ^f   Toler, Tomi L ^f   Ben Zev, Bruria ^g   Elpeleg, Orly ^h   Shen, Yufeng ^a   Retterer, Kyle ^b   Monaghan, Kristin G ^b   Chung, Wendy K ^a  

^a NewYork Presbyterian Hospital   (United States)

^b GENEDX   (United States)

^c Rutgers Robert Wood Johnson Medical Group   (United States)

^d UNIVERSITY OF LOUISVILLE SCHOOL OF MEDICINE   (United States)

^e Pediatrics and Genetics Clinics   (United States)

^f WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g Edmond and Lily Safra Children's Hospital   (Israel)

^h HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

alternative splicing; autism; developmental delay; HNRNPH2; microcephaly; neurodevelopment; pre mRNA; X chromosome

Indexed keywords

HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN H2; UNCLASSIFIED DRUG; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN GROUP F H; HNRNPH2 PROTEIN, HUMAN; NUCLEAR LOCALIZATION SIGNAL;

ADULT; ANXIETY DISORDER; ARTICLE; ATTENTION DEFICIT DISORDER; AUTISM; AUTOMUTILATION; BEHAVIOR DISORDER; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COMORBIDITY; DEVELOPMENTAL DELAY; DEVELOPMENTAL DISORDER; FACIES; FEMALE; GASTROINTESTINAL DISEASE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; GROWTH DISORDER; HUMAN; INTELLECTUAL IMPAIRMENT; MENTAL DISEASE; MICROCEPHALY; MISSENSE MUTATION; MOLECULAR PATHOLOGY; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; NEUROIMAGING; NEUROLOGIC EXAMINATION; NEUROPATHOLOGY; NUCLEAR LOCALIZATION SIGNAL; NUCLEAR MAGNETIC RESONANCE IMAGING; OBSESSIVE COMPULSIVE DISORDER; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; STEREOTYPY; X CHROMOSOME; YOUNG ADULT; ABNORMALITIES; ALTERNATIVE RNA SPLICING; AMINO ACID SEQUENCE; ANIMAL; CHEMISTRY; EMBRYO DEATH; EXOME; FACE; GENETICS; MALE; MUTATION; PHENOTYPE; SEXUAL DEVELOPMENT;

ADULT; ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; ANIMALS; AUTISTIC DISORDER; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; DEVELOPMENTAL DISABILITIES; EMBRYO LOSS; EXOME; FACE; FEMALE; GENE FREQUENCY; HETEROGENEOUS-NUCLEAR RIBONUCLEOPROTEIN GROUP F-H; HUMANS; INTELLECTUAL DISABILITY; MALE; MICROCEPHALY; MUSCLE HYPOTONIA; MUTATION; NEURODEVELOPMENTAL DISORDERS; NUCLEAR LOCALIZATION SIGNALS; PHENOTYPE; SEIZURES; SEX CHARACTERISTICS;

EID: 84996956268     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.06.028     Document Type: Article

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