ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

<p dir="ltr"><i>ACTB</i> encodes β-actin, an abundant cytoskeletal housekeeping protein. In humans, postulated gain-of-function missense mutations cause Baraitser-Winter syndrome (BRWS), characterized by intellectual disability, cortical malformations, coloboma, sensorine...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
المؤلف الرئيسي: Sara Cuvertino (18892069) (author)
مؤلفون آخرون: Helen M. Stuart (12563350) (author), Kate E. Chandler (18892072) (author), Neil A. Roberts (12910496) (author), Ruth Armstrong (18892075) (author), Laura Bernardini (18892078) (author), Sanjeev Bhaskar (3440021) (author), Bert Callewaert (526777) (author), Jill Clayton-Smith (2636653) (author), Cristina Hernando Davalillo (18892081) (author), Charu Deshpande (210571) (author), Koenraad Devriendt (264256) (author), Maria C. Digilio (18892084) (author), Abhijit Dixit (7813040) (author), Matthew Edwards (44866) (author), Jan M. Friedman (11252261) (author), Antonio Gonzalez-Meneses (18518244) (author), Shelagh Joss (4260136) (author), Bronwyn Kerr (18892087) (author), Anne Katrin Lampe (18892090) (author), Sylvie Langlois (3513848) (author), Rachel Lennon (3393728) (author), Philippe Loget (257857) (author), David Y.T. Ma (18892093) (author), Ruth McGowan (3374372) (author), Maryse Des Medt (18892096) (author), James O’Sullivan (7867148) (author), Sylvie Odent (689615) (author), Michael J. Parker (18892099) (author), Céline Pebrel-Richard (13179424) (author), Florence Petit (4260166) (author), Zornitza Stark (8128434) (author), Sylvia Stockler-Ipsiroglu (5467676) (author), Sigrid Tinschert (483418) (author), Pradeep Vasudevan (122294) (author), Olaya Villa (18892102) (author), Susan M. White (18892105) (author), Farah R. Zahir (18892108) (author), Adrian S. Woolf (9218813) (author), Siddharth Banka (8432901) (author)
منشور في: 2017
الموضوعات:
Biomedical and clinical sciences
Clinical sciences
ACTB
β-actin
malformations
developmental disorder
chromatin
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