Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.

Saved in:
Bibliographic Details
Title: Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.
Authors: Stephen J; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Vilboux T; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Division of Medical Genomics, Inova Translational Medicine Institute, Falls Church, VA, USA., Mian L; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA., Kuptanon C; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Sinclair CM; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Yildirimli D; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Maynard DM; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Bryant J; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Fischer R; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Vemulapalli M; NIH Intramural Sequencing Center (NISC), National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Mullikin JC; NIH Intramural Sequencing Center (NISC), National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Huizing M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Gahl WA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Malicdan MCV; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. malicdanm@mail.nih.gov.; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA. malicdanm@mail.nih.gov.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. malicdanm@mail.nih.gov., Gunay-Aygun M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. mgaygun@mail.nih.gov.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. mgaygun@mail.nih.gov.; Department of Pediatrics and McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. mgaygun@mail.nih.gov.
Corporate Authors: NISC Comparative Sequencing Program
Source: Human genetics [Hum Genet] 2017 Apr; Vol. 136 (4), pp. 399-408. Date of Electronic Publication: 2017 Feb 20.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1432-1203
DOI:10.1007/s00439-017-1765-z