7 results on '"Fitzpatrick, David"'
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2. Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas.
3. Disruption of an AP-2α binding site in an IRF6 enhancer is associated with cleft lip.
4. Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.
5. Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.
6. Mutations in SOX2 cause anophthalmia.
7. Filling in the gaps in cranial suture biology.
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