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- Title
Potocki‐Shaffer syndrome revealed in a WAGR syndrome case with multiple exostoses.
- Authors
Yaga, Takeshi; Iguchi, Akihiro; Nakayama, Robert; Kosaki, Rika; Ishiguro, Akira
- Abstract
The article presents a case study of 14-year-old girl initially diagnosed with WAGR syndrome, later developing multiple exostoses, indicative of Potocki-Shaffer syndrome (PSS). It is reported that genetic testing revealed a 26.4 Mb deletion on chromosome 11, indicating a combination of WAGR and PSS. It further underscores the need for long-term observation and genetic testing in complex syndromes.
- Subjects
GENETIC disorder diagnosis; EXOSTOSIS; GENETIC mutation; GENETIC disorders; GENETIC testing; MICROARRAY technology; WAGR syndrome; DISEASE complications; SYMPTOMS
- Publication
Pediatrics International, 2023, Vol 65, Issue 1, p1
- ISSN
1328-8067
- Publication type
Case Study
- DOI
10.1111/ped.15405