Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome

American Journal of Human Genetics

Volumn 103, Issue 6, 2018, Pages 968-975

  Wambach, Jennifer A ^a,b   Wegner, Daniel J ^a,b   Patni, Nivedita ^c   Kircher, Martin ^d   Willing, Marcia C ^a,b   Baldridge, Dustin ^a,b   Xing, Chao ^e   Agarwal, Anil K ^c   Vergano, Samantha A Schrier ^f   Patel, Chirag ^g   Grange, Dorothy K ^a,b   Kenney, Amy ^f   Najaf, Tasnim ^a,b   Nickerson, Deborah A ^d   Bamshad, Michael J ^d,h   Cole, F Sessions ^a,b   Garg, Abhimanyu ^c  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b ST LOUIS CHILDREN S HOSPITAL   (United States)

^c UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^d UNIVERSITY OF WASHINGTON   (United States)

^e UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^f CHILDREN S HOSPITAL OF THE KING S DAUGHTERS   (United States)

^g ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^h UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

neonatal progeroid syndrome; POLR3A, RNA polymerase 3A; Wiedemann Rautenstrauch syndrome

Indexed keywords

DNA DIRECTED RNA POLYMERASE III; SMALL UNTRANSLATED RNA; POLR3A PROTEIN, HUMAN;

ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BODY WEIGHT GAIN; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE ASSOCIATION; FACE MALFORMATION; FEMALE; GENETIC VARIABILITY; GENOTYPE; HUMAN; HYDROCEPHALUS; HYPOGONADOTROPIC HYPOGONADISM; INTRAUTERINE GROWTH RETARDATION; LEUKODYSTROPHY; LIPODYSTROPHY; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; OLIGODONTIA; PERINATAL PERIOD; PHENOTYPE; POL3A GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA PROCESSING; RNA TRANSLATION; TOOTH MALFORMATION; TRANSCRIPTION REGULATION; WIEDEMANN RAUTENSTRAUCH SYNDROME; YOUNG ADULT; ADOLESCENT; GENETIC VARIATION; GENETICS; HETEROZYGOSITY LOSS; PROGERIA;

ADOLESCENT; ADULT; ALLELES; CHILD, PRESCHOOL; FEMALE; FETAL GROWTH RETARDATION; GENETIC VARIATION; GENOTYPE; HUMANS; LOSS OF HETEROZYGOSITY; PHENOTYPE; PROGERIA; RNA POLYMERASE III; YOUNG ADULT;

EID: 85056863617     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2018.10.010     Document Type: Article

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