Article
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.
Human genetics - 1 Feb 2011
Kuss Andreas Walter, Garshasbi Masoud, Kahrizi Kimia, Tzschach Andreas, Behjati Farkhondeh, Darvish Hossein, Abbasi-Moheb Lia, Puettmann Lucia, Zecha Agnes, Weissmann Robert, Hu Hao, Mohseni Marzieh, Abedini Seyedeh Sedigheh, Rajab Anna, Hertzberg Christoph, Wieczorek Dagmar, Ullmann Reinhard, Ghasemi-Firouzabadi Saghar, Banihashemi Susan, Arzhangi Sanaz, Hadavi Valeh, Bahrami-Monajemi Gholamreza, Kasiri Mahboubeh, Falah Masoumeh, Nikuei Pooneh, Dehghan Atefeh, Sobhani Masoumeh, Jamali Payman, Ropers Hans Hilger, Najmabadi Hossein
Abstract excerpt
Mental retardation (MR) has a worldwide prevalence of around 2% and is a frequent cause of severe disability. Significant excess of MR in the progeny of consanguineous matings as well as functional considerations suggest that autosomal recessive forms of MR (ARMR) must be relatively common. To shed more light on the causes of autosomal recessive MR (ARMR), we have set out in 2003 to perform systematic clinical...
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