Deep Phenotyping in 1p36 Deletion Syndrome
Purpose Although 1p36 deletion syndrome is the most common terminal deletion syndrome, unexplained phenotypic variability still occurs. We aimed to delineate the phenotype of this syndrome in detail and to characterize the phenotype-genotype correlation. Methods We retrospectively reviewed 15 patien...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Korean Child Neurology Society
2020-10-01
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| Series: | Annals of Child Neurology |
| Subjects: | |
| Online Access: | http://www.annchildneurol.org/upload/pdf/acn-2020-00108.pdf |