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Article

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

BMC pediatrics - 12 Mar 2021

Chen Jian-Dong, Liao Wei-Dong, Wen Ling-Ying, Zhong Rong-Hua

Abstract excerpt

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, exhibited brittle hair, hair loss ichthyosis, eczema, retinal pigmentation and hypospadias. He carried a novel...

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PMID: 33711971
DOI: 10.1186/s12887-021-02585-4
PMCID: PMC7955621

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