| Title: |
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder |
| Authors: |
Martin, Carol-Anne; Sarlós, Kata; Logan, Clare V.; Thakur, Roshan Singh; Parry, David A.; Bizard, Anna H.; Leitch, Andrea; Cleal, Louise; Ali, Nadia Shaukat; Al-Owain, Mohammed A.; Allen, William; Altmüller, Janine; Aza-Carmona, Miriam; Barakat, Bushra A.Y.; Barraza-García, Jimena; Begtrup, Amber; Bogliolo, Massimo; Cho, Megan T.; Cruz-Rojo, Jaime; Mundi Dhahrabi, Hassan Ali; Elcioglu, Nursel H.; GOSgene; Gorman, Gráinne S.; Jobling, Rebekah; Kesterton, Ian; Kishita, Yoshihito; Kohda, Masakazu; Le Quesne Stabej, Polona; Malallah, Asam Jassim; Nürnberg, Peter; Ohtake, Akira; Okazaki, Yasushi; Pujol, Roser; Ramirez, Maria José; Revah-Politi, Anya; Shimura, Masaru; Stevens, Paul; Taylor, Robert W.; Turner, Lesley; Williams, Hywel; Wilson, Carolyn; Yigit, Gökhan; Zahavich, Laura; Alkuraya, Fowzan S.; Surralles, Jordi; Iglesias, Alejandro; Murayama, Kei; Wollnik, Bernd; Dattani, Mehul; Heath, Karen E. |
| Source: |
The American Journal of Human Genetics ; volume 111, issue 5, page 996 ; ISSN 0002-9297 |
| Publisher Information: |
Elsevier BV |
| Publication Year: |
2024 |
| Collection: |
ScienceDirect (Elsevier - Open Access Articles via Crossref) |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| DOI: |
10.1016/j.ajhg.2024.04.008 |
| Availability: |
https://doi.org/10.1016/j.ajhg.2024.04.008; https://api.elsevier.com/content/article/PII:S000292972400123X?httpAccept=text/xml; https://api.elsevier.com/content/article/PII:S000292972400123X?httpAccept=text/plain |
| Rights: |
https://www.elsevier.com/tdm/userlicense/1.0/ ; https://www.elsevier.com/legal/tdmrep-license ; http://creativecommons.org/licenses/by-nc-nd/4.0/ |
| Accession Number: |
edsbas.D5358982 |
| Database: |
BASE |