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Familial Aggregation of a Novel Missense Variant of COL2A1 Gene Associated with Short Extremities: Case Report and Review of the Literature.
Christopoulos, Panagiotis; Eleftheriades, Anna; Paltoglou, George; Paschalidou, Eleni; Kalampokas, Emmanouil; Florentin, Lina; Billi, Chrysanthi; Eleftheriades, Makarios.
Affiliation
  • Christopoulos P; Second Department of Obstetrics and Gynaecology, 'Aretaieio' Hospital, Medical School, National and Kapodistrian University of Athens, 11528 Athens, Greece.
  • Eleftheriades A; Second Department of Obstetrics and Gynaecology, 'Aretaieio' Hospital, Medical School, National and Kapodistrian University of Athens, 11528 Athens, Greece.
  • Paltoglou G; Postgraduate Programme "Maternal Fetal Medicine", Medical School, National and Kapodistrian University of Athens, 11527 Athens, Greece.
  • Paschalidou E; First Department of Pediatrics, 'Aghia Sophia' Children's Hospital, Division of Endocrinology, Metabolism and Diabetes, Medical School, National and Kapodistrian University of Athens, 11527 Athens, Greece.
  • Kalampokas E; Second Department of Obstetrics and Gynaecology, 'Aretaieio' Hospital, Medical School, National and Kapodistrian University of Athens, 11528 Athens, Greece.
  • Florentin L; Second Department of Obstetrics and Gynaecology, 'Aretaieio' Hospital, Medical School, National and Kapodistrian University of Athens, 11528 Athens, Greece.
  • Billi C; A-Lab Genetic and Genomic Centre, 11524 Athens, Greece.
  • Eleftheriades M; A-Lab Genetic and Genomic Centre, 11524 Athens, Greece.
Children (Basel) ; 9(8)2022 Aug 14.
Article in En | MEDLINE | ID: mdl-36010119
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Risk_factors_studies Language: En Journal: Children (Basel) Year: 2022 Type: Article Affiliation country: Greece
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Risk_factors_studies Language: En Journal: Children (Basel) Year: 2022 Type: Article Affiliation country: Greece