TY - JOUR AU - Chen, Jian-Dong AU - Liao, Wei-Dong AU - Wen, Ling-Ying AU - Zhong, Rong-Hua PY - 2021 DA - 2021/03/12 TI - Novel ERCC2 variant in trichothiodystrophy infant: the first case report in China JO - BMC Pediatrics SP - 123 VL - 21 IS - 1 AB - Trichothiodystrophy (TTD) is a rare, autosomal recessive, multisystem disorder most commonly caused by variants in ERCC2. SN - 1471-2431 UR - https://doi.org/10.1186/s12887-021-02585-4 DO - 10.1186/s12887-021-02585-4 ID - Chen2021 ER -