ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes.

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作者： Ozlem,Akgun-Dogan ^[1] ; Pelin O,Simsek-Kiper ^[2] ; Ekim,Taskiran ^[1] ; Christina,Lissewski ^[3] ; Julia,Brinkmann ^[4] ; Denny,Schanze ^[4] ; Rahşan,Göçmen ^[4] ; Deniz,Cagdas ^[5] ; Yelda,Bilginer ^[6] ; Gülen E,Utine ^[7] ; Martin,Zenker ^[1] ; Seza,Ozen ^[4] ; İlhan,Tezcan ^[7] ; Mehmet,Alikasifoglu ^[6] ; Koray,Boduroğlu ^[1]

作者单位： Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. ^[1] Division of Pediatric Genetics, Department of Pediatrics, Ümraniye Training and Research Hospital, Istanbul, Turkey. ^[2] Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey. ^[3] Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany. ^[4] Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey. ^[5] Division of Pediatric Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. ^[6] Division of Pediatric Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. ^[7]

关键词 ADA2 SHOC2 DADA2 Noonan syndrome-like disorder with loose anagen hair consanguinity