Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus.
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| Title: | Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus. |
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| Authors: | Ruggeri G; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington., Timms AE; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington., Cheng C; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington., Weiss A; Division of Ophthalmology, Roger H. Johnson Vision Lab, Seattle Children's Hospital, Seattle, Washington.; Department of Ophthalmology, University of Washington School of Medicine, Seattle, Washington., Kollros P; Division of Pediatric Neurology, Seattle Children's Hospital, Seattle, Washington., Chapman T; Department of Radiology, Seattle Children's Hospital, Seattle, Washington.; University of Washington School of Medicine, University of Washington, Seattle, Washington., Tully H; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.; Division of Pediatric Neurology, Seattle Children's Hospital, Seattle, Washington., Mirzaa GM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2018 Mar; Vol. 176 (3), pp. 676-681. Date of Electronic Publication: 2018 Jan 17. |
| Publication Type: | Case Reports; Journal Article; Research Support, N.I.H., Extramural |
| 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.38592 |
