FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation
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Author / Creator
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. and Renieri, Alessandra
Publisher
New York: Nature Publishing Group US
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Language
English
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Publisher
New York: Nature Publishing Group US
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Scope and Contents
Contents
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)
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Alternative Titles
Full title
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation
Authors, Artists and Contributors
Author / Creator
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
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Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_04144095v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_04144095v1
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng857
