Novel ERCC2 variant in trichothiodystrophy infant: the first case report in China

• Asıl Yazarlar: Jian-Dong Chen (Yazar), Wei-Dong Liao (Yazar), Ling-Ying Wen (Yazar), Rong-Hua Zhong (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2021-03-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Abstract Background Trichothiodystrophy (TTD) is a rare, autosomal recessive, multisystem disorder most commonly caused by variants in ERCC2. Case presentation Here, we describe the first Chinese patient with a novel variant in ERCC2. A male infant, who was born to a healthy non-consanguineous coupl...