Here, we report two unrelated children showing clinical features typical of TTD who harbor different homozygous missense mutations in GTF2E2 (c.448G&gt;C [p.Ala150Pro] and c.559G&gt;T [p.Asp187Tyr]) encoding the beta subunit of transcription factor IIE (TFIIE&#946;).
C1955934
Trichothiodystrophy Syndromes