Novel ERCC2 variant in trichothiodystrophy infant: the first case report in China
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...
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| Main Authors: | , , , |
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| Format: | Book |
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BMC,
2021-03-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |