A review of craniofacial disorders caused by spliceosomal defects.

Lehalle, D; Wieczorek, D; Zechi-Ceide, R M; Passos-Bueno, M R; Lyonnet, S; Amiel, J; Gordon, C T

Lehalle, D; Wieczorek, D; Zechi-Ceide, R M; Passos-Bueno, M R; Lyonnet, S; Amiel, J; Gordon, C T.

Affiliation

Lehalle D; Department of Genetics, APHP, Hôpital Necker-Enfants Malades, Paris, France.
Wieczorek D; Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.
Zechi-Ceide RM; Departamento de Genetica Clinica, Hospital de Reabilitacao de Anomalias Craniofaciais, Universidade de Sao Paulo (HRAC-USP), Bauru, Brasil.
Passos-Bueno MR; Centro de Estudos do Genoma Humano, Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, Brasil.
Lyonnet S; Department of Genetics, APHP, Hôpital Necker-Enfants Malades, Paris, France.
Amiel J; INSERM UMR 1163, Institut Imagine, Paris, France.
Gordon CT; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.

Clin Genet ; 88(5): 405-15, 2015 Nov.

Article in En | MEDLINE | ID: mdl-25865758

Subject(s)

Choanal Atresia/metabolism; Clubfoot/metabolism; Deafness/congenital; Hand Deformities, Congenital/metabolism; Heart Defects, Congenital/metabolism; Intellectual Disability/metabolism; Mandibulofacial Dysostosis/metabolism; Micrognathism/metabolism; Mutation; Pierre Robin Syndrome/metabolism; Ribs/abnormalities; Spliceosomes/metabolism; Choanal Atresia/genetics; Clubfoot/genetics; DEAD-box RNA Helicases/genetics; Deafness/genetics; Deafness/metabolism; Eukaryotic Initiation Factor-4A/genetics; Facies; Female; Hand Deformities, Congenital/genetics; Heart Defects, Congenital/genetics; Humans; Intellectual Disability/genetics; Male; Mandibulofacial Dysostosis/genetics; Micrognathism/genetics; Peptide Elongation Factors/genetics; Pierre Robin Syndrome/genetics; RNA Splicing Factors; RNA-Binding Proteins/genetics; Ribonucleoprotein, U5 Small Nuclear/genetics; Ribs/metabolism; Spliceosomes/genetics

Key words

congenital malformations; craniofacial; mandibulofacial dysostosis; spliceosome

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Full text: 1 Database: MEDLINE Main subject: Pierre Robin Syndrome / Ribs / Hand Deformities, Congenital / Clubfoot / Choanal Atresia / Spliceosomes / Deafness / Heart Defects, Congenital / Mandibulofacial Dysostosis / Intellectual Disability Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Year: 2015 Type: Article

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