P412: An atypical case of pseudohypoparathyroidism 1b due to uniparental hetero- and isodisomy detected by genome sequencing
Multiple surgical interventions were employed to correct the proband’s skeletal anomalies, including hip, knee, and ankle plate surgery at age 12, and a right proximal femoral intertrochanteric valgus osteotomy with internal fixation as well as a right tibial and fibular osteotomy for correction of genu valgum. The proband is being treated with calcium carbonate, calcitriol, and cholecalciferol (vitamin D-3). Renal ultrasound was normal.
Authors
- Marwan S. Shinawi (ORCID: https://orcid.org/0000-0003-1329-4100)
- Josh Lowry (ORCID: https://orcid.org/0000-0003-3671-469X)
- Ryan J. Taft (ORCID: https://orcid.org/0000-0003-4538-3343)
- Dorothy K. Grange (ORCID: https://orcid.org/0000-0001-7425-6322)
- Brendan Burns
- Evgenii Chekalin
- Zinayida Schlachetzki
- Ajay Ramakrishnan Varadarajan
- Denise Perry
- Brittany C. Thomas (ORCID: https://orcid.org/0000-0003-2870-1522)
- Richard Wang (ORCID: https://orcid.org/0000-0003-3442-0559)
- Akanchha Kesari
- Jon Albay
Institutions
- Illumina (United States) (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103279
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 0.00