Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review
Abstract Background Arboleda-Tham syndrome (ARTHS), caused by a pathogenic variant of KAT6A, is an autosomal dominant inherited genetic disorder characterized by various degrees of developmental delay, dysmorphic facial appearance, cardiac anomalies, and gastrointestinal problems. Case presentation...
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| Main Authors: | , , , , |
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| Format: | Book |
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BMC,
2021-12-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |