Case report: The evolving phenotype of ESCO2 spectrum disorder in a 15-year-old Malaysian child
ESCO2 spectrum disorder is an autosomal recessive developmental disorder characterized by growth retardation, symmetrical mesomelic limb malformation, and distinctive facies with microcephaly, with a wide phenotypic continuum that ranges from Roberts syndrome (MIM #268300) at the severe end to SC ph...
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| Main Authors: | , , |
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| Format: | Article |
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FRONTIERS MEDIA SA
2024
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| Subjects: | |
| Online Access: | http://eprints.um.edu.my/44170/ https://doi.org/10.3389/fgene.2023.1286489 |
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