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A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia.
Rautengarten, Carsten; Quarrell, Oliver W; Stals, Karen; Caswell, Richard C; De Franco, Elisa; Baple, Emma; Burgess, Nadia; Jokhi, Roobin; Heazlewood, Joshua L; Offiah, Amaka C; Ebert, Berit; Ellard, Sian.
Affiliation
  • Rautengarten C; School of BioSciences, The University of Melbourne, Victoria 3010, Australia.
  • Quarrell OW; Department of Clinical Genetics, Sheffield Children's Hospital, Western Bank, Sheffield S10 2TH, UK.
  • Stals K; Department of Molecular Genetics, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.
  • Caswell RC; University of Exeter School of Medicine, Barrack Road, Exeter EX2 5DW, UK.
  • De Franco E; Department of Molecular Genetics, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.
  • Baple E; Department of Molecular Genetics, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.
  • Burgess N; University of Exeter School of Medicine, Barrack Road, Exeter EX2 5DW, UK.
  • Jokhi R; Department of Histology, Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield UK. S10 2TH, UK.
  • Heazlewood JL; Department of Obstetrics and Gynaecology, Sheffield Teaching Hospitals, Jessop Wing Tree Root Walk, Sheffield S10 2SF, UK.
  • Offiah AC; School of BioSciences, The University of Melbourne, Victoria 3010, Australia.
  • Ebert B; University of Sheffield, Academic Unit of Child Health, Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK.
  • Ellard S; School of BioSciences, The University of Melbourne, Victoria 3010, Australia.
Hum Mol Genet ; 28(21): 3543-3551, 2019 11 01.
Article in En | MEDLINE | ID: mdl-31423530
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Monosaccharide Transport Proteins / Fetal Diseases Type of study: Prognostic_studies Limits: Animals / Female / Humans / Male Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2019 Type: Article Affiliation country: Australia
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Monosaccharide Transport Proteins / Fetal Diseases Type of study: Prognostic_studies Limits: Animals / Female / Humans / Male Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2019 Type: Article Affiliation country: Australia