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Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

Archive ouverte | Bögershausen, Nina | CCSD

International audience. Kabuki syndrome (KS) is a rare but recognizable condition that consists of a characteristic face, short stature, various organ malformations, and a variable degree of intellectual disability....

Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies

Archive ouverte | Barat-Houari, Mouna | CCSD

International audience. Mutations in the COL2A1 gene cause a spectrum of rare autosomal-dominant conditions characterized by skeletal dysplasia, short stature, and sensorial defects. An early diagnosis is critical t...

Dysspondyloenchondromatosis without COL2A1 mutation: Possible genetic heterogeneity

Archive ouverte | Tran Mau-Them, Frederic | CCSD

International audience. Dysspondyloenchondromatosis is a rare form of generalized enchondromatosis associated with spinal involvement. This skeletal dysplasia is characterized by multiple enchondromas present in ver...

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