Article
GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.
American journal of human genetics - 4 May 2017
Patel Nisha, Shamseldin Hanan E, Sakati Nadia, Khan Arif O, Softa Ameen, Al-Fadhli Fatima M, Hashem Mais, Abdulwahab Firdous M, Alshidi Tarfa, Alomar Rana, Alobeid Eman, Wakil Salma M, Colak Dilek, Alkuraya Fowzan S
Abstract excerpt
Larsen syndrome is characterized by the dislocation of large joints and other less consistent clinical findings. Heterozygous FLNB mutations account for the majority of Larsen syndrome cases, but biallelic mutations in CHST3 and B4GALT7 have been more recently described, thus confirming the existence of recessive forms of the disease. In a multiplex consanguineous Saudi family affected by severe and recurrent...
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