[Analysis of clinical characteristics and genetic variants in two pedigrees affected with Autosomal dominant intellectual developmental disorder 49].
This study had diagnosed two MRD49 families through high-throughput sequencing. Above findings have enriched the phenotypic and mutational spectrum of MRD49 in China, which has also facilitated genetic counseling for the two pedigrees.
Authors
- Weitong Guo
- Yuqiang Lyu
- Min Gao (ORCID: https://orcid.org/0000-0003-2424-1573)
- Yanqing Zhang (ORCID: https://orcid.org/0000-0001-9849-8422)
- Jian Ma (ORCID: https://orcid.org/0000-0002-4202-5834)
- Ning Li (ORCID: https://orcid.org/0000-0001-9014-5913)
- Zhongtao Gai
- Kaihui Zhang (ORCID: https://orcid.org/0000-0003-4799-9133)
- Yi Liu (ORCID: https://orcid.org/0009-0005-0466-743X)
Institutions
- Qilu Hospital of Shandong University (CN)
Publication Details
- Journal
- PubMed
- Published
- 2024-11-10
- DOI
- https://doi.org/10.3760/cma.j.cn-511374-20240102-00002
- Citations
- 1
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article