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Article

<i>IL11RA‐</i>related Crouzon‐like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences

21 Jun 2018

Abstract excerpt

By describing 10 new patients recruited in centres for Human Genetics, we further delineate the clinical spectrum of a Crouzon-like craniosynostosis disorder, officially termed craniosynostosis and dental anomalies (MIM614188). Singularly, it is inherited according to an autosomal recessive mode of inheritance. We identified six missense mutations in IL11RA, a gene encoding the alpha subunit of interleukin 11...

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PMID: 29926465
DOI: 10.1111/cge.13409

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