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• W2808745340 abstract "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 receptor, 4 of them being novel, including 2 in the Ig‐like C2‐type domain. A subset of patients had an associated connective tissue disorder with joint hypermobility and intervertebral discs fragility. A smaller number of teeth anomalies than that previously reported in the two large series of patients evaluated in dental institutes points toward an ascertainment bias." @default.
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• W2808745340 date "2018-07-23" @default.
• W2808745340 modified "2023-10-18" @default.
• W2808745340 title "<i>IL11RA-</i>related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences" @default.
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• W2808745340 doi "https://doi.org/10.1111/cge.13409" @default.
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