Article
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation.
Nature genetics - 1 Apr 2002
Meloni Ilaria, Muscettola Maddalena, Raynaud Martine, Longo Ilaria, Bruttini Mirella, Moizard Marie-Pierre, Gomot Marie, Chelly Jamel, des Portes Vincent, Fryns Jean-Pierre, Ropers Hans-Hilger, Magi Barbara, Bellan Cristina, Volpi Nila, Yntema Helger G, Lewis Sarah E, Schaffer Jean E, Renieri Alessandra
Abstract excerpt
X-linked mental retardation (XLMR) is an inherited condition that causes failure to develop cognitive abilities, owing to mutations in a gene on the X chromosome. The latest XLMR update lists up to 136 conditions leading to 'syndromic', or 'specific', mental retardation (MRXS) and 66 entries leading to 'nonspecific' mental retardation (MRX). For 9 of the 66 MRX entries, the causative gene has been identified. Our...
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