Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations

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 intellectua...

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Bibliographische Detailangaben
Veröffentlicht in:Clin Case Rep
Hauptverfasser: Warren, Hannah E., Louie, Raymond J., Friez, Michael J., Frías, Jaime L., Leroy, Jules G., Spranger, Jürgen W., Skinner, Steven A., Champaigne, Neena L.
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2018
Schlagworte:
Case Reports
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6230601/
https://ncbi.nlm.nih.gov/pubmed/30455931
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1818
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