Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling

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Mouna Barat-Houari, Geneviève Geneviève, Frédéric Tran Mau Them, Aurélie C.S. Fabre, David Geneviève and Isabelle Touitou

American Journal of Medical Genetics Part A, Vol.170(1), pp.263 - 265

01/2016

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Title: Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling
Creators - without role: Mouna Barat-Houari - Université de Montpellier, Cell souches plasticité cellul régénérat tissulaire immuno des maladies inflamm - IRMB
Geneviève Geneviève - Université de Montpellier, Cell souches plasticité cellul régénérat tissulaire immuno des maladies inflamm - IRMB
Frédéric Tran Mau Them - Département de génétique médicale, maladies rares et médecine personnalisée [CHU Montpellier]
Aurélie C.S. Fabre
David Geneviève - Inserm
Isabelle Touitou - Inserm
Publication Details: American Journal of Medical Genetics Part A, Vol.170(1), pp.263 - 265
Identifiers: 9945354309311
Academic Unit: Cell souches plasticité cellul régénérat tissulaire immuno des maladies inflamm - IRMB
Language: English
Resource Type: Journal article
Local Fields: hal-01847029