Genetics in Medicine Open (Jan 2024)
P050: Biallelic variants in POLG2 provides a rare molecular diagnosis in a patient with epilepsy and liver failure
- Vittoria Rossi,
- Dan Brooks,
- Hongzheng Dai,
- Elizabeth Mizerik,
- Yishay Ben-Moshe,
- Seema Lalani,
- Daryl Scott,
- Fernando Scaglia,
- Keren Machol,
- Mir Reza Bekheirnia
Affiliations
- Vittoria Rossi
- Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, and Texas Children’s Hospital, Houston, TX
- Dan Brooks
- Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, and Texas Children’s Hospital, Houston, TX
- Hongzheng Dai
- Baylor Genetics, Houston, TX
- Elizabeth Mizerik
- Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, and Texas Children’s Hospital, Houston, TX
- Yishay Ben-Moshe
- Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, and Texas Children’s Hospital, Houston, TX
- Seema Lalani
- Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, and Texas Children’s Hospital, Houston, TX
- Daryl Scott
- Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, and Texas Children’s Hospital, Houston, TX
- Fernando Scaglia
- Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, and Texas Children’s Hospital, Houston, TX, and Joint BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Hong Kong SAR, China
- Keren Machol
- Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, and Texas Children’s Hospital, Houston, TX
- Mir Reza Bekheirnia
- Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, and Texas Children’s Hospital, Houston, TX
- Journal volume & issue
-
Vol. 2
p. 100927
