The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

Source :

• Journal of Medical Genetics [ 0022-2593 ] ; 2007-07.

Descripteurs français

• Pascal (Inist)
  • Etude familiale, Gène, Génétique, Homme, Milieu familial, Mutation faux sens, Syndrome.
• Wicri :
  • topic : Génétique, Homme, Médiateur.

English descriptors

• KwdEn :
  • Alain verloes, American guidance service, Andrew futreal, Asthenic habitus, Astrid richard, Behavioural, Behavioural disturbances, Broad thumbs, Caenorhabditis elegans, Callosum, Centile, Cindy skinner, Circle pines, Clinical findings, Clinical manifestations, Corpus callosum, Differential diagnosis, Emotional lability, FG syndrome, Opitz–Kaveggia syndrome, Facial appearance, Family environment, Family study, Fryns, Fryns syndrome, Gene, Gene encoding, Gene mutations, Genet, Genetics, Group home, Habitus, Hiba risheg, Human, Human genetics, Hyperextensible, Hyperextensible digits, Hyperextensible joints, Hypernasal, Hypernasal speech, Hypotonia, IQ, intelligence quotient, Intelligence quotient, K8295, kindred 8295, Legal guardians, Long hands, Lucy raymond, Lujan, Lujan syndrome, MED12, mediator of RNA polymerase II transcription subunit 12, Macrocephaly, Major findings, Marfanoid, Marfanoid habitus, Maxillary hypoplasia, Mediator, Mental retardation, Missense mutation, Mutation, Narrow face, Narrow palate, Nasal root, Novel missense mutation, Open mouth, Original family, Original lujan syndrome family, Other families, Palate, Partial pedigree, Philtrum, Proc natl acad, Recurrent mutation, Retardation, Same alteration, Sarah edkins, Second family, Self research institute, Short philtrum, Small mouth, Syndrome, Tall forehead, Tall stature, Transcription subunit, Upslanting palpebral fissures, Wellcome trust sanger institute, XLMR, X-linked mental retardation, Xlmr, Xlmr syndromes.
• Teeft :
  • Alain verloes, American guidance service, Andrew futreal, Asthenic habitus, Astrid richard, Behavioural, Behavioural disturbances, Broad thumbs, Caenorhabditis elegans, Callosum, Centile, Cindy skinner, Circle pines, Clinical findings, Clinical manifestations, Corpus callosum, Differential diagnosis, Emotional lability, Facial appearance, Fryns, Fryns syndrome, Gene encoding, Gene mutations, Genet, Group home, Habitus, Hiba risheg, Human genetics, Hyperextensible, Hyperextensible digits, Hyperextensible joints, Hypernasal, Hypernasal speech, Hypotonia, Intelligence quotient, Legal guardians, Long hands, Lucy raymond, Lujan, Lujan syndrome, Macrocephaly, Major findings, Marfanoid, Marfanoid habitus, Maxillary hypoplasia, Mediator, Mental retardation, Mutation, Narrow face, Narrow palate, Nasal root, Novel missense mutation, Open mouth, Original family, Original lujan syndrome family, Other families, Palate, Partial pedigree, Philtrum, Proc natl acad, Recurrent mutation, Retardation, Same alteration, Sarah edkins, Second family, Self research institute, Short philtrum, Small mouth, Syndrome, Tall forehead, Tall stature, Transcription subunit, Upslanting palpebral fissures, Wellcome trust sanger institute, Xlmr, Xlmr syndromes.

Abstract

• https://api.istex.fr/document/CC9DBA4A5784CBD30E2CF9C6D482746DC54919A1/fulltext/pdf
• http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2597996

Affiliations:

• Australie, France, Royaume-Uni, États-Unis
• Angleterre, Angleterre de l'Est, Caroline du Sud, Centre-Val de Loire, Région Centre
• Cambridge, Orléans
• Université de Cambridge

Links toward previous steps (curation, corpus...)

• to stream Istex, to step Corpus: 002618
• to stream Istex, to step Curation: 002618
• to stream Istex, to step Checkpoint: 001327
• to stream Pmc, to step Corpus: 000F25
• to stream Pmc, to step Curation: 000D86
• to stream Pmc, to step Checkpoint: 002A79
• to stream Ncbi, to step Merge: 000251
• to stream Ncbi, to step Curation: 000251
• to stream Ncbi, to step Checkpoint: 000251
• to stream Main, to step Merge: 009A51
• to stream PascalFrancis, to step Corpus: 003B49
• to stream PascalFrancis, to step Curation: 002539
• to stream PascalFrancis, to step Checkpoint: 003555
• to stream Main, to step Merge: 009C67
• to stream Main, to step Curation: 009078

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