A Cockayne-Syndrome-Like Phenotype with a Homozygous Truncating UVSSA Variant: Might This Be a New Cause?

UV-sensitive syndrome and Cockayne syndrome (CS) are rare autosomal recessive and transcription-coupled nucleotide excision repair disorders with different clinical manifestations, although some types are allelic. We report on a patient who passed away at 15 years old with a progeroid-like appearanc...

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Veröffentlicht in:	Molecular syndromology 2024-08, Vol.15 (4), p.324-327
Hauptverfasser:	Bahap, Yusuf, Kayhan, Gulsum
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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