Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies.
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| Title: | Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies. |
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| Authors: | Inskeep KA; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA., Monteil D; Department of Pediatrics, Naval Medical Center Portsmouth, Portsmouth, Virginia, USA., Spranger J; Children's Hospital, University of Mainz, Mainz, Germany., Doherty D; Department of Pediatrics, Center on Human Development and Disability, University of Washington, Seattle, Washington, USA., Stottmann RW; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Weaver KN; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2022 Jan; Vol. 188 (1), pp. 104-115. Date of Electronic Publication: 2021 Sep 15. |
| Publication Type: | Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.62497 |
