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Human Mutation, ISSN 1059-7794, 07/2019, Volume 40, Issue 7, pp. 899 - 903
Biallelic and pathogenic variants in the RTTN gene, encoding the centrosomal protein Rotatin, are associated with variable degrees of neurodevelopmental... 
microcephaly | brachydactyly | RTTN | exon skipping | Rotatin | gene variant | RTTN gene variant | MALFORMATIONS | GENETICS & HEREDITY | Dwarfism | Microencephaly | Leukocyte migration | Magnetic resonance imaging | Neurodevelopmental disorders | Microcephaly | Cell migration | Brachydactyly | Index Medicus
Journal Article
Journal Article
Birth Defects Research, ISSN 2472-1727, 04/2018, Volume 110, Issue 7, pp. 598 - 602
BackgroundThe RTTN gene encodes Rotatin, a large centrosomal protein involved in ciliary functions. RTTN mutations have been reported in seven families and are... 
microcephaly | prenatal diagnosis | fetopathology | Rotatin | neuropathology | RTTN mutations | MALFORMATIONS | GROWTH | DEVELOPMENTAL BIOLOGY | TOXICOLOGY | Brain - pathology | Carrier Proteins - genetics | Microcephaly - genetics | Mutation | Humans | Microcephaly - pathology | Index Medicus
Journal Article
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