Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome

Journal of Medical Genetics

Volumn 55, Issue 12, 2018, Pages 837-846

  Paolacci, Stefano ^a   Li, Yun ^b   Agolini, Emanuele ^c   Bellacchio, Emanuele ^c   Arboleda Bustos, Carlos E ^d   Carrero, Dido ^e   Bertola, Debora ^f   Al Gazali, Lihadh ^g   Alders, Mariel ^h   Altmuller, Janine ⁱ   Arboleda, Gonzalo ^d   Beleggia, Filippo ^j   Bruselles, Alessandro ^k   Ciolfi, Andrea ^c   Gillessen Kaesbach, Gabriele ^l   Krieg, Thomas ^j   Mohammed, Shehla ^m   Muller, Christian ^b   Novelli, Antonio ^c   Ortega, Jenny ^d   Sandoval, Adrian ^d   Velasco, Gloria ^e   Yigit, Gokhan ^b   Arboleda, Humberto ^d   Lopez Otin, Carlos ^e   Wollnik, Bernd ^b   Tartaglia, Marco ^c   Hennekam, Raoul C ^h   more..

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d UNIVERSIDAD NACIONAL DE COLOMBIA   (Colombia)

^e DEPARTAMENTO DE BIOQUÍMICA Y BIOLOGÍA MOLECULAR   (Spain)

^f UNIVERSITY OF SÃO PAULO   (Brazil)

^g UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^h UNIVERSITY OF AMSTERDAM   (Netherlands)

ⁱ UNIVERSITY OF COLOGNE   (Germany)

^j UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^k ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^l UNIVERSITY OF LÜBECK   (Germany)

^m GUY S HOSPITAL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA; POLR3A PROTEIN; PROTEIN; UNCLASSIFIED DRUG; DNA DIRECTED RNA POLYMERASE III; POLR3A PROTEIN, HUMAN;

ADOLESCENT; ALLELE; ARTICLE; ATAXIA; CLINICAL ARTICLE; COMPUTER MODEL; FAMILY; FEMALE; GENE IDENTIFICATION; GENE LOCATION; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; MALE; PRIORITY JOURNAL; PROGERIA; SPASTICITY; WHOLE EXOME SEQUENCING; WIEDEMANN RAUTENSTRAUCH SYNDROME; ADULT; AMINO ACID SEQUENCE; BIOLOGY; CHEMISTRY; CONSANGUINITY; DNA SEQUENCE; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETIC VARIATION; GENETICS; GENOTYPE; INTRAUTERINE GROWTH RETARDATION; MOLECULAR MODEL; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PROTEIN CONFORMATION; REPRODUCIBILITY; STRUCTURE ACTIVITY RELATION;

ADULT; ALLELES; AMINO ACID SEQUENCE; BASE SEQUENCE; COMPUTATIONAL BIOLOGY; CONSANGUINITY; FEMALE; FETAL GROWTH RETARDATION; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOTYPE; HAPLOTYPES; HUMANS; MALE; MODELS, MOLECULAR; MUTATION; PEDIGREE; PROGERIA; PROTEIN CONFORMATION; REPRODUCIBILITY OF RESULTS; RNA POLYMERASE III; SEQUENCE ANALYSIS, DNA; STRUCTURE-ACTIVITY RELATIONSHIP; WHOLE EXOME SEQUENCING;

EID: 85054960143     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2018-105528     Document Type: Article

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