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A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 gene (ZFHX3)
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A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 gene (ZFHX3)
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- Journal Article
- A1
- open access
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies: expanding the phenotypes associated with EFTUD2 mutations
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Mutation-based growth charts for SEDC and other COL2A1 related dysplasias
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Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients