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- Title
Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations.
- Authors
Warren, Hannah E.; Louie, Raymond J.; Friez, Michael J.; Frías, Jaime L.; Leroy, Jules G.; Spranger, Jürgen W.; Skinner, Steven A.; Champaigne, Neena L.
- Abstract
Key Clinical Message: Presented are two patients with autosomal dominant omodysplasia and mutations in the FZD2 gene. The mutations identified have been recently reported, suggesting the possibility of recurrent mutations. The phenotypes of these patients overlap with what has been previously reported, though intellectual disability as seen in our patient is not typical. Presented are two patients with autosomal dominant omodysplasia and mutations in the FZD2 gene. The mutations identified have been recently reported, suggesting the possibility of recurrent mutations. The phenotypes of these patients overlap with what has been previously reported, though intellectual disability as seen in our patient is not typical.
- Subjects
GENETIC mutation; CHROMOSOME abnormalities; MOSAICISM; HYDROTHERMAL alteration; GENE expression
- Publication
Clinical Case Reports, 2018, Vol 6, Issue 11, p2252
- ISSN
2050-0904
- Publication type
Case Study
- DOI
10.1002/ccr3.1818