Further Clinical and Molecular Delineation of Xp11.22 Deletion Syndrome: A Case Report.

We describe a male patient who matches the phenotype and contributes to defining a narrow phenocritical region at Xp11.22. We propose that GSPT2 loss-of-function might be the probable cause of the phenotypic features seen in these patients. PMID: 31555424 [PubMed]
Source: Oman Medical Journal - Category: Middle East Health Tags: Oman Med J Source Type: research