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MCPH is characterized by intellectual disability and microcephaly at birth, classically without further organ involvement. Only recently, congenital cataracts were reported in four patients of one pedigree with MCPH3. Given the lack of a further pedigree with this phenotype, it remained unclear whether this was a true causal relationship. Here we support the link between CDK5RAP2 and eye development by showing that most <jats:italic>Cdk5rap2<\/jats:italic> mutant mice (<jats:italic>an\/an<\/jats:italic>) exhibit eye malformations ranging from reduced size of one or both eyes (microphthalmia) to total absence of both eyes (anophthalmia). We also detected increased apoptosis in the <jats:italic>an\/an<\/jats:italic> retinal progenitor cells associated with more mitotic cells. This indicates an important role of Cdk5rap2 in physiologic eye development.<\/jats:p>","DOI":"10.1111\/ahg.12343","type":"journal-article","created":{"date-parts":[[2019,7,29]],"date-time":"2019-07-29T12:00:19Z","timestamp":1564401619000},"page":"87-91","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Congenital microcephaly\u2010linked CDK5RAP2 affects eye development"],"prefix":"10.1111","volume":"84","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3298-4425","authenticated-orcid":false,"given":"Sami","family":"Zaqout","sequence":"first","affiliation":[{"name":"Institute of Cell and Neurobiology Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin  Berlin Germany"},{"name":"Center for Chronically Sick Children (Sozialp\u00e4diatrisches Zentrum, SPZ) Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin  Berlin Germany"},{"name":"Department of Pediatric Neurology Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin  Berlin Germany"},{"name":"Berlin Institute of Health (BIH)  Berlin Germany"},{"name":"Basic Medical Science Department, College of Medicine, QU Health Qatar University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ethiraj","family":"Ravindran","sequence":"additional","affiliation":[{"name":"Institute of Cell and Neurobiology Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin  Berlin Germany"},{"name":"Center for Chronically Sick Children (Sozialp\u00e4diatrisches Zentrum, SPZ) Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin  Berlin Germany"},{"name":"Department of Pediatric Neurology Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin  Berlin Germany"},{"name":"Berlin Institute of Health (BIH)  Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gisela","family":"Stoltenburg\u2010Didinger","sequence":"additional","affiliation":[{"name":"Institute of Cell and Neurobiology Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin  Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela M.","family":"Kaindl","sequence":"additional","affiliation":[{"name":"Institute of Cell and Neurobiology Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin  Berlin Germany"},{"name":"Center for Chronically Sick Children (Sozialp\u00e4diatrisches Zentrum, SPZ) Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin  Berlin Germany"},{"name":"Department of Pediatric Neurology Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin  Berlin Germany"},{"name":"Berlin Institute of Health (BIH)  Berlin Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,7,29]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/ahg.12232"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/cercor\/bhs212"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pneurobio.2009.11.002"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-011-0635-4"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1080\/15384101.2015.1044169"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.040410"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tcb.2011.04.007"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35558"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.6.917"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.stemcr.2017.01.002"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0037-1601448"}],"container-title":["Annals 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