Expanding the PURA Syndrome Phenotype with Manifestations in a Japanese Female Patient
Human genome variation(2022)
摘要
We report on a 15-year-old Japanese female patient with hypotonia and global developmental delay from the neonatal period who was revealed to carry a known pathogenic PURA variant (NM_005859.5:c.697_699del, p.Phe233del) by whole-exome sequencing. She had previously unreported clinical features, including a rectovestibular fistula, extremely short stature, and underweight, expanding the known phenotype of PURA syndrome.
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关键词
Epilepsy,Growth disorders,Paediatric neurological disorders,Biomedicine,general,Human Genetics,Molecular Medicine,Gene Function,Gene Expression,Gene Therapy
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