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Diagnosis and treatment of MN1 C‐terminal truncation syndrome

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MN1 C‐terminal truncation (MCTT) is a rare syndrome; only 27 cases have been reported. We report the first case of an 8‐year‐old girl with MCTT syndrome complicated with moderate obstructive… Click to show full abstract

MN1 C‐terminal truncation (MCTT) is a rare syndrome; only 27 cases have been reported. We report the first case of an 8‐year‐old girl with MCTT syndrome complicated with moderate obstructive sleep apnea (OSA).

Keywords: diagnosis treatment; mn1 terminal; truncation syndrome; terminal truncation; treatment mn1

Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2022

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