Biallelic variants in CRIPT cause Rothmund-Thomson syndrome and genome instability with excessive cellular senescence

Averdunk, Luisa; von Felbert, Verena; Neveling, Kornelia; Krawitz, Peter; Boor, Peter; Distelmaier, Felix; Faqeih, Eissa Ali; Antonin, Wolfram; Wang, Lisa; Lalani, Seema; Seibt, Annette; McKee, Shane; Mayatepek, Ertan; Jachimovicz, Ron; Wieczorek, Dagmar; Navaratnarajah, Tharsini; Omar, Jamal A. S.; Hoischen, Alexander; Moreno-Andrés, Daniel; Huetzen, Maxim A.; Brunet, Theresa; Hsieh, Tzung-Chien

doi:1018-4813

Biallelic variants in CRIPT cause Rothmund-Thomson syndrome and genome instability with excessive cellular senescence

Averdunk, Luisa (Corresponding author) ; Huetzen, Maxim A. ; Moreno-Andrés, Daniel^RWTH* ; McKee, Shane ; Hsieh, Tzung-Chien ; Seibt, Annette ; Navaratnarajah, Tharsini ; Faqeih, Eissa Ali ; Brunet, Theresa ; Boor, Peter^RWTH* ; Neveling, Kornelia ; Hoischen, Alexander ; Lalani, Seema ; Omar, Jamal A. S. ; Krawitz, Peter ; Mayatepek, Ertan ; Jachimovicz, Ron ; Antonin, Wolfram^RWTH* ; Wieczorek, Dagmar ; Wang, Lisa ; von Felbert, Verena^RWTH* ; Distelmaier, Felix

In
Abstracts collections

In
European journal of human genetics 31(Supplement S1), Seiten/Artikel-Nr.:C19.4

2023

Konferenz/Event:55. European Society of Human Genetics (ESHG) Conference , Vienna , Austria , 2022-06-11 - 2022-06-14

ImpressumBasingstoke : Stockton Press

Umfang55-55

ISSN1476-5438

In Artikel: Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations. - Seiten 3-90

Online
URL: https://www.nature.com/articles/s41431-023-01337-5

Einrichtungen

External link:

Fulltext

Dokumenttyp
Abstract/Journal Article/Contribution to a conference proceedings

Format
online, print

Sprache
English

Externe Identnummern
WOS Core Collection: WOS:001050507000116

Interne Identnummern
RWTH-CONV-252550
Datensatz-ID: 982487

Beteiligte Länder
Germany, Netherlands, Saudi Arabia, UK

Lizenzstatus der Zeitschrift

; BIOSIS Previews ; Biological Abstracts ; Clarivate Analytics Master Journal List ; Current Contents - Life Sciences ; DEAL Springer ; Ebsco Academic Search ; Essential Science Indicators ; IF >= 5 ; JCR ; PubMed Central ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection