Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age
Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder associated with unusual facial features, limb abnormalities, a wide range of health conditions, and intellectual disability. Mutations in five genes that encode (SMC1A, SMC3, RAD21) or regulate (NIPBL, HDAC8) the cohesin complex hav...
| Main Authors: | , , , , , , , , , , |
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| Formato: | Journal article |
| Idioma: | English |
| Publicado: |
Wiley
2017
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