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Paper Details

Infantile Cirrhosis, Growth Impairment, and Neurodevelopmental Anomalies Associated with Deficiency of PPP1R15B.
J Pediatr
8
2016
Deficiency of PPP1R15B, Growth Impairment, Infantile Cirrhosis, Neurodevelopmental Anomalies, PPP1R15B, children, cirrhosis, eukaryotic translation initiation factor 2, germline DNA, liver disease, phosphorylated
Female, Growth Disorders, Humans, Infant, Liver Cirrhosis, Mutation, Neurodevelopmental Disorders, Phenotype, Protein Phosphatase 1, Sequence Analysis, DNA
Author NameAffiliation
Saeed MohammadFeinberg School of Medicine of Northwestern University and Ann and Robert H Lurie Children's Hospital of Chicago
Lynne A WolfeNational Institutes of Health Undiagnosed Diseases Program, National Institutes of Health
Lynne A WolfeNational Institutes of Health Undiagnosed Diseases Program, National Institutes of Health
Petra St??beCenter for Genomics and Transcriptomics
Saskia BiskupCenter for Genomics and Transcriptomics
M WainwrightFeinberg School of Medicine of Northwestern University and Ann and Robert H. Lurie Children's Hospital of Chicago
Hector Melin-AldanaFeinberg School of Medicine of Northwestern University and Ann and Robert H Lurie Children's Hospital of Chicago
Padmini MalladiFeinberg School of Medicine of Northwestern University and Ann and Robert H Lurie Children's Hospital of Chicago
Maximilian MuenkeNational Human Genome Research Institute, National Institutes of Health
William A GahlOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health
William A GahlOffice of the Clinical Director, National Human Genome Research Institute, National Institutes of Health
Peter F WhitingtonFeinberg School of Medicine of Northwestern University and Ann and Robert H Lurie Children's Hospital of Chicago
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Release 1.2