Clinical and molecular findings in a Turkish family with an ultra-rare condition, ELP2-related neurodevelopmental disorder
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s11033-020-06097-9.pdf
Reference35 articles.
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3. Badawi N, Watson L, Petterson B, Blair E, Slee J, Haan E, Stanley F (1998) What constitutes cerebral palsy? Dev Med Child Neurol 40:520–527
4. Capriotti E, Fariselli P, Casadio R (2005) I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure. Nucleic Acids Res 33:W306–W310
5. Close P, Hawkes N, Cornez I, Creppe C, Lambert CA, Rogister B, Chariot A (2006) Transcription impairment and cellmigration defects in elongator-depleted cells: implication for familial dysautonomia. Mol Cell 22:521–531. https://doi.org/10.1016/j.molcel.2006.04.017
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