P343: Identification of a novel homozygous TMEM53 variant in a patient with extensive homozygosity: Classification challenges despite phenotypic consistency with craniotubular dysplasia
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774425003474 |
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