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Quantitative hypermorphic FAM111A alleles cause autosomal recessive Kenny-Caffey syndrome type 2 and osteocraniostenosis.

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第一作者： Dong,Li

第一单位： Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.;Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.

作者： Dong,Li ^[1] ; Niels,Mailand ^[2] ; Emma,Ewing ^[2] ; Saskia,Hoffmann ^[2] ; Richard C,Caswell ^[3] ; Lewis,Pang ^[3] ; Jacqueline,Eason ^[4] ; Ying,Dou ^[5] ; Kathleen E,Sullivan ^[6] ; Hakon,Hakonarson ^[1] ; Michael A,Levine ^[7]

作者单位： Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.;Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA. ^[1] The Novo Nordisk Foundation Center for Protein Research, University of Copenhagen, Denmark. ^[2] Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom. ^[3] Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom. ^[4] Division of Allergy and Immunology and. ^[5] Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.;Division of Allergy and Immunology and. ^[6] Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.;Division of Endocrinology and Diabetes and Center for Bone Health, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. ^[7]

关键词 Endocrinology Genetic diseases Genetics