Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann–Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations

Human Genetics

Volumn 137, Issue 11-12, 2018, Pages 921-939

  Lessel, Davor ^a   Ozel, Ayse Bilge ^b   Campbell, Susan E ^c   Saadi, Abdelkrim ^d   Arlt, Martin F ^b   McSweeney, Keisha Melodi ^e   Plaiasu, Vasilica ^f   Szakszon, Katalin ^g   Szőllős, Anna ^g   Rusu, Cristina ^h   Rojas, Armando J ⁱ   Lopez Valdez, Jaime ^j   Thiele, Holger ^k   Nürnberg, Peter ^k,l   Nickerson, Deborah A ^m   Bamshad, Michael J ^m   Li, Jun Z ^b   Kubisch, Christian ^a   Glover, Thomas W ^b   Gordon, Leslie B ^n,o  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^c BROWN UNIVERSITY   (United States)

^d CHU Mustapha   (Algeria)

^e CENTER FOR DRUG EVALUATION AND RESEARCH   (United States)

^f Regional Center of Medical Genetics   (Romania)

^g UNIVERSITY OF DEBRECEN   (Hungary)

^h GRIGORE T POPA UNIVERSITY OF MEDICINE AND PHARMACY   (Romania)

ⁱ PONTIFICIA UNIVERSIDAD JAVERIANA   (Colombia)

^j Hospital Miguel Hidalgo   (Mexico)

^k UNIVERSITY OF COLOGNE   (Germany)

^l UNIVERSITY OF COLOGNE   (Germany)

^m UNIVERSITY OF WASHINGTON   (United States)

ⁿ BROWN UNIVERSITY   (United States)

^o HASBRO CHILDREN'S HOSPITAL   (United States)

more..

Author keywords

Hutchinson Gilford progeria syndrome; Juvenile segmental progeroid syndrome; POLR3A; PYCR1; Wiedemann Rautenstrauch progeroid syndrome

Indexed keywords

ALLELE; ARTICLE; CHILD; CLINICAL ARTICLE; FEMALE; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; JUVENILE SEGMENTAL PROGEROID SYNDROME; LMNA GENE; MALE; MOLECULAR DIAGNOSIS; MONOGENIC DISORDER; MUTATOR GENE; POLR3A GENE; PREMATURE AGING; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGERIA; SANGER SEQUENCING; SCHOOL CHILD; UNIVERSITY HOSPITAL; ADOLESCENT; ALTERNATIVE RNA SPLICING; GENETIC PREDISPOSITION; GENETICS; INFANT; INTRAUTERINE GROWTH RETARDATION; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; PHENOTYPE;

DELTA-1-PYRROLINE-5-CARBOXYLATE REDUCTASE; DNA DIRECTED RNA POLYMERASE III; LAMIN A; LMNA PROTEIN, HUMAN; POLR3A PROTEIN, HUMAN; PRELAMIN A; PYRROLINE 5 CARBOXYLATE REDUCTASE;

ADOLESCENT; ALTERNATIVE SPLICING; CHILD; FEMALE; FETAL GROWTH RETARDATION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; LAMIN TYPE A; MALE; MUTATION; PHENOTYPE; PROGERIA; PYRROLINE CARBOXYLATE REDUCTASES; RNA POLYMERASE III;

EID: 85056811645     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-018-1957-1     Document Type: Article

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