The document discusses a literature review on the connection between the Neuroblastoma Amplified Sequence (NBAS) gene and the Short Stature-Optic Atrophy-Pelger-Huet Anomaly Syndrome (SOPH). The review examines previous research that identified mutations in the NBAS gene as the biological cause of the SOPH syndrome. The literature review analyzed data from 129 individuals across 5 studies and all research consistently linked the SOPH syndrome to mutations in the NBAS gene.

The Connection Between Neuroblastoma Amplified Sequence Gene (NBAS) and The Short StatureOptic-Atrophy-Pelger-Huet Anomaly Syndrome (SOPH) Literature Review

The Connection Between Neuroblastoma Amplified Sequence Gene (NBAS) and The Short StatureOptic-Atrophy-Pelger-Huet Anomaly Syndrome (SOPH) Literature Review PDF

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