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

In Paediatric Dermatology
by ClinOwl

Trichothiodystrophy (TTD) is a rare, autosomal recessive, multisystem disorder most commonly caused by variants in ERCC2.Here, we describe the first Chinese patient with a novel variant in ERCC2. A male […]