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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.153 | PTH2R |
Achchuthan Shanmugasundram gene: PTH2R was added gene: PTH2R was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: PTH2R was set to Other Publications for gene: PTH2R were set to 26044810; 36980886 Phenotypes for gene: PTH2R were set to craniosynostosis, MONDO:0015469 Review for gene: PTH2R was set to RED Added comment: A boy presenting with sagittal and metopic synostosis was found to harbour a complex paracentric inversion involving 2q14.3 and 2q3. An intronic break of the PTH2R gene was detected by whole genome sequencing and fluorescence in situ hybridisation (PMID:26044810). Sources: Literature |
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