P234: CCN6 copy number variant and null variant in monozygous twins with progressive pseudorheumatoid dysplasia revealed by WGS and deep phenotyping
Main Authors: | Kexin Xu, Guozhuang Li, Jianguo Zhang, Nan Wu |
---|---|
Format: | Article |
Language: | English |
Published: |
Elsevier
2024-01-01
|
Series: | Genetics in Medicine Open |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774424002760 |
Similar Items
-
Novel homozygous variant in WISP3 in a family with unrecognized progressive pseudorheumatoid dysplasia
by: Chandreshkumar Patel, et al.
Published: (2020-08-01) -
Monozygous twins with Epstein-Barr infection in the nasopharynx
by: S. V. Khaliullina, et al.
Published: (2020-11-01) -
Feed intake and milk yield in monozygous cattle-twins
by: Gravert HO
Published: (1980-01-01) -
Case Report: Recurrent Variant c.298 TA in CCN6 Gene Found in Progressive Pseudorheumatoid Dysplasia Patients From Patni Community of Gujarat: A Report of Three Cases
by: Harsh Sheth, et al.
Published: (2021-09-01) -
A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family
by: Nagwa E. A. Gaboon, et al.
Published: (2019-06-01)