P741: Brothers concordant for adverse phenotype and Primrose syndrome apparently by parental gonadal mosaicism for ZBTB20 variant
Main Authors: | Tatiana Hellwig, Jennifer Black, Nienke Dosa, Prateek Wali, David Hansen, Arayamparambil Anilkumar, Robert Lebel |
---|---|
Format: | Article |
Language: | English |
Published: |
Elsevier
2024-01-01
|
Series: | Genetics in Medicine Open |
Online Access: | http://www.sciencedirect.com/science/article/pii/S294977442400791X |
Similar Items
-
Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature
by: Cleaver, RJ, et al.
Published: (2019) -
P442: An atypical presentation of 17q12 recurrent deletion syndrome resulting in the misdiagnosis of Meckel-Gruber syndrome: A case report
by: Kathleen Renna, et al.
Published: (2024-01-01) -
Peas and Primroses
by: Lynne S. Wilcox, MD, MPH
Published: (2005-03-01) -
P241: Expanding the phenotype of DREAM-PL: A case report
by: Daniel Mahoney, et al.
Published: (2023-01-01) -
ZBTB7A forms a heterodimer with ZBTB2 and inhibits ZBTB2 homodimerization required for full activation of HIF-1
by: Kambe, G, et al.
Published: (2024)