Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations University of Antwerp Vrije Universiteit Brussel
Biallelic mutations in the RTTN gene have been reported in association with microcephaly, short stature, developmental delay and malformations of cortical development. RTTN mutations have previously shown to link aberrant ciliary function with abnormal development and organization of the human cerebral cortex. We here report three individuals from two unrelated families with novel mutations in the RTTN gene. The phenotype consisted of ...