6 results on '"Fitzpatrick, David"'
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2. Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals
3. A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation
4. A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX
5. The genetic architecture of microphthalmia, anophthalmia and coloboma
6. A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX
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