Mutations in the interleukin receptor <i><scp>IL</scp>11<scp>RA</scp></i> cause autosomal recessive Crouzon‐like craniosynostosis

Abstract excerpt

We have characterized a novel autosomal recessive Crouzon-like craniosynostosis syndrome in a 12-affected member family from Antakya, Turkey, the presenting features of which include: multiple suture synostosis, midface hypoplasia, variable degree of exophthalmos, relative prognathism, a beaked nose, and conductive hearing loss. Homozygosity mapping followed by targeted next-generation sequencing identified a...

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