Literature DB >> 31587267

Aplasia cutis congenita associated with a heterozygous loss-of-function UBA2 variant.

Y Wang1, L Dupuis1, R Jobling1, P Kannu1,2.   

Abstract

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Year:  2019        PMID： 31587267     DOI： 10.1111/bjd.18594

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  3 in total

1.  A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins.

Authors:  Benedicte Bang; Jesper Eisfeldt; Gisela Barbany; Arja Harila-Saari; Mats Heyman; Vasilios Zachariadis; Fulya Taylan; Ann Nordgren
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2.  Deciphering the mutational signature of congenital limb malformations.

Authors:  Liying Sun; Yingzhao Huang; Sen Zhao; Junhui Zhao; Zihui Yan; Yang Guo; Mao Lin; Wenyao Zhong; Yuehan Yin; Zefu Chen; Nan Zhang; Yuanqiang Zhang; Zongxuan Zhao; Qingyang Li; Lianlei Wang; Xiying Dong; Yaqi Li; Xiaoxin Li; Guixing Qiu; Terry Jianguo Zhang; Zhihong Wu; Wen Tian; Nan Wu
Journal:  Mol Ther Nucleic Acids       Date:  2021-04-20       Impact factor: 8.886

3.  UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.

Authors:  Rhonda E Schnur; Sairah Yousaf; James Liu; Wendy K Chung; Lindsay Rhodes; Michael Marble; Regina M Zambrano; Nara Sobreira; Parul Jayakar; Mary Ella Pierpont; Matthew J Schultz; Pavel N Pichurin; Rory J Olson; Gail E Graham; Matthew Osmond; Gustavo A Contreras-García; Karina A Campo-Neira; Camilo A Peñaloza-Mantilla; Mark Flage; Srikar Kuppa; Karina Navarro; Maria J Guillen Sacoto; Ingrid M Wentzensen; Maria I Scarano; Jane Juusola; Carlos E Prada; Robert B Hufnagel
Journal:  Genet Med       Date:  2021-05-26       Impact factor: 8.822
  3 in total

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