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Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.
Batkovskyte, Dominyka; McKenzie, Fiona; Taylan, Fulya; Simsek-Kiper, Pelin Ozlem; Nikkel, Sarah M; Ohashi, Hirofumi; Stevenson, Roger E; Ha, Thuong; Cavalcanti, Denise P; Miyahara, Hiroyuki; Skinner, Steven A; Aguirre, Miguel A; Akçören, Zühal; Utine, Gulen Eda; Chiu, Tillie; Shimizu, Kenji; Hammarsjö, Anna; Boduroglu, Koray; Moore, Hannah W; Louie, Raymond J; Arts, Peer; Merrihew, Allie N; Babic, Milena; Jackson, Matilda R; Papadogiannakis, Nikos; Lindstrand, Anna; Nordgren, Ann; Barnett, Christopher P; Scott, Hamish S; Chagin, Andrei S; Nishimura, Gen; Grigelioniene, Giedre.
Affiliation
  • Batkovskyte D; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • McKenzie F; Genetic Services of Western Australia, Perth, Australia.
  • Taylan F; School of Pediatrics and Child Health, University of Western Australia, Perth, Australia.
  • Simsek-Kiper PO; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Nikkel SM; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Ohashi H; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
  • Stevenson RE; Provincial Medical Genetics Program, BC Women's Hospital, Vancouver, Canada.
  • Ha T; University of British Columbia, Vancouver, Canada.
  • Cavalcanti DP; Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.
  • Miyahara H; Greenwood Genetic Center, Greenwood, SC, USA.
  • Skinner SA; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance between SA Pathology and the University of South Australia, Adelaide, Australia.
  • Aguirre MA; ACRF Cancer Genomics Facility, Centre for Cancer Biology, An Alliance between SA Pathology and the University of South Australia, Adelaide, Australia.
  • Akçören Z; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, Australia.
  • Utine GE; Skeletal Dysplasias Group, Department of Translational Medicine, Medical Genetics, University of Campinas (UNICAMP), Campinas, Brazil.
  • Chiu T; Division of Neonatology, Kawaguchi City Medical Center, Kawaguchi, Japan.
  • Shimizu K; Greenwood Genetic Center, Greenwood, SC, USA.
  • Hammarsjö A; Centro Nacional de Genética Médica (CENAGEM), A.N.L.I.S "Dr. Carlos G. Malbrán", Buenos Aires, Argentina.
  • Boduroglu K; Division of Pediatric Pathology, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
  • Moore HW; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
  • Louie RJ; CHEO Genetics Clinic, Regional Genetics Program, Ottawa, Canada.
  • Arts P; Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan.
  • Merrihew AN; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Babic M; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Jackson MR; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
  • Papadogiannakis N; Greenwood Genetic Center, Greenwood, SC, USA.
  • Lindstrand A; Greenwood Genetic Center, Greenwood, SC, USA.
  • Nordgren A; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance between SA Pathology and the University of South Australia, Adelaide, Australia.
  • Barnett CP; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, Australia.
  • Scott HS; Greenwood Genetic Center, Greenwood, SC, USA.
  • Chagin AS; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance between SA Pathology and the University of South Australia, Adelaide, Australia.
  • Nishimura G; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia.
  • Grigelioniene G; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance between SA Pathology and the University of South Australia, Adelaide, Australia.
J Bone Miner Res ; 38(5): 692-706, 2023 05.
Article in En | MEDLINE | ID: mdl-36896612
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Bone Diseases, Developmental / Limb Deformities, Congenital Limits: Humans Language: En Journal: J Bone Miner Res Journal subject: METABOLISMO / ORTOPEDIA Year: 2023 Type: Article Affiliation country: Sweden
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Bone Diseases, Developmental / Limb Deformities, Congenital Limits: Humans Language: En Journal: J Bone Miner Res Journal subject: METABOLISMO / ORTOPEDIA Year: 2023 Type: Article Affiliation country: Sweden