PMC Articles for MedGen (Select 869257) - PMC

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Items: 4

Select item 103931861.

Clinical features of PPP2 syndrome type R5D (Jordan's syndrome) to support standardization of care

Alexis D. Levine, Wendy K. Chung

Cold Spring Harb Mol Case Stud. 2023 Jun; 9(3): a006285. doi: 10.1101/mcs.a006285

PMCID:: PMC10393186

Abstract Article PDF–863K

Select item 89589062.

Ethylmalonic encephalopathy masquerading as meningococcemia

Ari Horton, Kai Mun Hong, Dinusha Pandithan, Meredith Allen, Caroline Killick, Stacy Goergen, Amanda Springer, Dean Phelan, Melanie Marty, Rebecca Halligan, Joy Lee, James Pitt, Belinda Chong, John Christodoulou, Sebastian Lunke, Zornitza Stark, Michael Fahey

Cold Spring Harb Mol Case Stud. 2022 Feb; 8(2): a006193. doi: 10.1101/mcs.a006193

PMCID:: PMC8958906

Abstract Article PDF–4.1M

Select item 73043623.

Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing

Isabelle Thiffault, Andrea Atherton, Bryce A. Heese, Ahmed T. Abdelmoity, Kailash Pawar, Emily Farrow, Lee Zellmer, Neil Miller, Sarah Soden, Carol Saunders

Cold Spring Harb Mol Case Stud. 2020 Jun; 6(3): a003970. doi: 10.1101/mcs.a003970