A novel homozygous HES7 splicing variant causing spondylocostal dysostosis 4: a case report
BackgroundSpondylocostal dysostosis 4 (SCDO4) is characterized by short stature (mainly short trunk), dyspnea, brain meningocele, and spina bifida occulta, which is caused by homozygous or compound heterozygous HES7 (HES family bHLH transcription factor 7) variants. The incidence of SCDO4 remains un...
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| Main Authors: | , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2023-08-01T00:00:00Z.
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