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

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 couple, exhi...

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Detalles Bibliográficos
Autores principales: Chen, Jian-Dong, Liao, Wei-Dong, Wen, Ling-Ying, Zhong, Rong-Hua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7955621/
https://www.ncbi.nlm.nih.gov/pubmed/33711971
http://dx.doi.org/10.1186/s12887-021-02585-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7955621/
https://www.ncbi.nlm.nih.gov/pubmed/33711971
http://dx.doi.org/10.1186/s12887-021-02585-4

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