Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta associated with OASIS-deficiency to survive infancy.

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作者： Katarina,Lindahl ^[1] ; Eva,Åström ^[2] ; Anca,Dragomir ^[3] ; Sofie,Symoens ^[4] ; Paul,Coucke ^[4] ; Sune,Larsson ^[5] ; Eleftherios,Paschalis ^[6] ; Paul,Roschger ^[6] ; Sonja,Gamsjaeger ^[6] ; Klaus,Klaushofer ^[6] ; Nadja,Fratzl-Zelman ^[6] ; Andreas,Kindmark ^[7]

作者单位： Dept. of Medical Sciences, Uppsala University Hospital, Uppsala, Sweden. Electronic address: Katarina.lindahl@medsci.uu.se. ^[1] Department of Woman and Child Health, Karolinska Institutet and Pediatric Neurology, Astrid Lindgren Children's Hospital at Karolinska University Hospital, Stockholm, Sweden. ^[2] Dept. of Surgical Pathology, Uppsala University Hospital, Uppsala, Sweden. ^[3] Dept. of Medical Genetics, The University Hospital in Ghent, Ghent, Belgium. ^[4] Dept. of Surgical Sciences, Uppsala University Hospital, Uppsala, Sweden. ^[5] Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Center Meidling, 1st Medical Department Hanusch Hospital, Vienna, Austria. ^[6] Dept. of Medical Sciences, Uppsala University Hospital, Uppsala, Sweden. ^[7]

关键词 CREB3L1 Collagen type I Glycosaminoglycan OASIS Osteogenesis imperfecta Recessive