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Both effects most likely lead to complete loss of KATNB1 function. Homozygous and compound heterozygous mutations in <jats:italic>KATNB1<\/jats:italic> have very recently been described as a cause of microcephaly with brain malformations and seizures. We extend the <jats:italic>KATNB1<\/jats:italic> associated phenotype by describing a syndrome characterized by primordial dwarfism, lissencephaly, polysyndactyly, and dental anomalies, which is caused by a homozygous truncating <jats:italic>KATNB1<\/jats:italic> mutation. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37484","type":"journal-article","created":{"date-parts":[[2015,12,7]],"date-time":"2015-12-07T04:36:45Z","timestamp":1449463005000},"page":"728-733","source":"Crossref","is-referenced-by-count":14,"title":["A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous <i>KATNB1<\/i> mutation"],"prefix":"10.1002","volume":"170","author":[{"given":"G\u00f6khan","family":"Yigit","sequence":"first","affiliation":[{"name":"Institute of Human Genetics University of Cologne Cologne Germany"},{"name":"Center for Molecular Medicine Cologne (CMMC) University of Cologne Cologne Germany"},{"name":"Cologne Excellence Cluster on Cellular Stress Responses in Aging\u2010Associated Diseases (CECAD) University of Cologne Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dagmar","family":"Wieczorek","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Humangenetik Universit\u00e4tsklinikum Essen Universit\u00e4t Duisburg\u2010Essen Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nina","family":"B\u00f6gershausen","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Cologne Cologne Germany"},{"name":"Center for Molecular Medicine Cologne (CMMC) University of Cologne Cologne Germany"},{"name":"Cologne Excellence Cluster on Cellular Stress Responses in Aging\u2010Associated Diseases (CECAD) University of Cologne Cologne Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filippo","family":"Beleggia","sequence":"additional","affiliation":[{"name":"Institute of Human 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