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Paper Details

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.
Am J Hum Genet
13
2018
Bi, CCDC47, CCDC47 Variants, CCDC47 mRNA, Ca2+, Ca2+-binding ER transmembrane protein, Ccdc47, Dysmorphic Features, Global Developmental Delay, IP3R, Liver Dysfunction, Mendelian disease, Woolly Hair, alleles, calumin, dysmorphic features, embryonic lethality, global developmental delay, hypotonia, liver dysfunction, mice, multisystem disorder, pruritus, woolly hair
Author NameAffiliation
Zineb AmmousThe Community Health Clinic
Kevin A StraussClinic for Special Children
Erik G PuffenbergerClinic for Special Children
Karlla W BrigattiClinic for Special Children
Zeynep Coban AkdemirBaylor College of Medicine
Ellen MacnamaraNational Institutes of Health Undiagnosed Diseases Program, National Institutes of Health
Tulay TosDr. Sami Ulus Research and Training Hospital of Women's and Children's Health and Diseases
Sedat I????kayHasan Kalyoncu University
Michele NehrebeckyNational Institutes of Health Undiagnosed Diseases Program, National Institutes of Health
John D OvertonRegeneron Pharmaceuticals Inc.
John D OvertonRegeneron Pharmaceuticals Inc.
Thomas C MarkelloNational Institutes of Health Undiagnosed Diseases Program, National Institutes of Health
Jennifer E PoseyBaylor College of Medicine
David R AdamsNational Institutes of Health Undiagnosed Diseases Program, National Institutes of Health, National Human Genome Research Institute, USA Office of the Clinical Director
David R AdamsNational Institutes of Health Undiagnosed Diseases Program, National Institutes of Health, National Human Genome Research Institute, USA Office of the Clinical Director
James R LupskiBaylor College of Medicine, USA Texas Children's Hospital
James R LupskiBaylor College of Medicine, USA Texas Children's Hospital
William A GahlNational Institutes of Health Undiagnosed Diseases Program, National Institutes of Health, National Human Genome Research Institute, USA Office of the Clinical Director
William A GahlNational Institutes of Health Undiagnosed Diseases Program, National Institutes of Health, National Human Genome Research Institute, USA Office of the Clinical Director
May Christine V MalicdanNational Institutes of Health Undiagnosed Diseases Program, National Institutes of Health, National Human Genome Research Institute, USA Office of the Clinical Director
May Christine V MalicdanNational Institutes of Health Undiagnosed Diseases Program, National Institutes of Health, National Human Genome Research Institute, USA Office of the Clinical Director
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