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A novel variant in BMPR1B causes acromesomelic dysplasia Grebe type in a consanguineous Moroccan family: Expanding the phenotypic and mutational spectrum of acromesomelic dysplasias.
Lhousni, Saida; Charif, Majida; Derouich, Yassine; Elidrissi Errahhali, Mounia; Elidrissi Errahhali, Manal; Ouarzane, Meryem; Lenaers, Guy; Boulouiz, Redouane; Belahcen, Mohammed; Bellaoui, Mohammed.
Afiliación
  • Lhousni S; Genetics Unit, Medical Sciences Research Laboratory, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco; BRO Biobank, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco.
  • Charif M; Genetics Unit, Medical Sciences Research Laboratory, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco; BRO Biobank, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco; Genetics and Immuno-Cell Therapy Team, Faculty of Science, University Mohamm
  • Derouich Y; Department of Pediatric Orthopedic and Trauma Surgery, Mohammed VI University Hospital, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco.
  • Elidrissi Errahhali M; Genetics Unit, Medical Sciences Research Laboratory, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco; BRO Biobank, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco.
  • Elidrissi Errahhali M; Genetics Unit, Medical Sciences Research Laboratory, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco; BRO Biobank, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco.
  • Ouarzane M; Genetics Unit, Medical Sciences Research Laboratory, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco; BRO Biobank, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco.
  • Lenaers G; Université d'Angers, Equipe MitoLab, Unité MitoVasc, INSERM U1083, CNRS 6015, F-49933 Angers, France; Service de Neurologie, CHU d'Angers, Angers, France.
  • Boulouiz R; Genetics Unit, Medical Sciences Research Laboratory, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco; BRO Biobank, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco.
  • Belahcen M; Department of Pediatric Orthopedic and Trauma Surgery, Mohammed VI University Hospital, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco.
  • Bellaoui M; Genetics Unit, Medical Sciences Research Laboratory, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco; BRO Biobank, Faculty of Medicine and Pharmacy, University Mohammed Premier, Oujda, Morocco. Electronic address: m.bellaoui@ump.ac.ma.
Bone ; 175: 116860, 2023 10.
Article en En | MEDLINE | ID: mdl-37524292
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteocondrodisplasias Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Bone Asunto de la revista: METABOLISMO / ORTOPEDIA Año: 2023 Tipo del documento: Article País de afiliación: Marruecos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteocondrodisplasias Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Bone Asunto de la revista: METABOLISMO / ORTOPEDIA Año: 2023 Tipo del documento: Article País de afiliación: Marruecos Pais de publicación: Estados Unidos