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Pascolini G, Passarelli C, Lipari M, et al. Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB. Clin Genet. 2021;doi: 10.1111/cge.14101.
Pascolini, G., Passarelli, C., Lipari, M., Chandramouli, B., Chillemi, G., Di Giosaffatte, N., Novelli, A., & Grammatico, P. (2021). Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB. Clinical genetics, . https://doi.org/10.1111/cge.14101
Pascolini, Giulia, et al. "Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB." Clinical genetics vol. (2021). doi: https://doi.org/10.1111/cge.14101
Pascolini G, Passarelli C, Lipari M, Chandramouli B, Chillemi G, Di Giosaffatte N, Novelli A, Grammatico P. Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB. Clin Genet. 2021 Dec 28; doi: 10.1111/cge.14101. Epub 2021 Dec 28. PMID: 34964110.
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Clin Genet. 2021 Dec 28; doi: 10.1111/cge.14101. Epub 2021 Dec 28.

Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB.

Clinical genetics

Giulia Pascolini, Chiara Passarelli, Martina Lipari, Balasubramanian Chandramouli, Giovanni Chillemi, Niccolo' Di Giosaffatte, Antonio Novelli, Paola Grammatico

Affiliations

  1. Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
  2. Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  3. Super Computing Applications and Innovation, CINECA, Bologna, Italy.
  4. DIBAF, Universita' della Tuscia, Viterbo, Italy.

PMID: 34964110 DOI: 10.1111/cge.14101

[No abstract available.]

References

  1. Park JG, Tischfield MA, Nugent AA, et al. Loss of MAFB function in humans and mice causes Duane syndrome, aberrant extraocular muscle innervation, and inner-ear defects. Am J Hum Genet. 2016;98:1220-1227. doi:10.1016/j.ajhg.2016.03.023 - PubMed
  2. Waterhouse A, Bertoni M, Bienert S, et al. SWISS-MODEL: homology modelling of protein structures and complexes. Nucleic Acids Res. 2018;46:W296-W303. doi:10.1093/nar/gky427 - PubMed
  3. Tu S, Akhtar MW, Escorihuela RM, et al. NitroSynapsin therapy for a mouse MEF2C haploinsufficiency model of human autism. Nat Commun. 2017;8:1488. doi:10.1038/s41467â017â01563â8 - PubMed

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