An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation

Moebius syndrome is characterized by congenital unilateral or bilateral facial and abducens nerve palsies (sixth and seventh cranial nerves) causing facial weakness, feeding difficulties, and restricted ocular movements. Abnormalities of the chest wall such as Poland anomaly and variable limb defect...

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Veröffentlicht in:Cold Spring Harb Mol Case Stud
Hauptverfasser: Patel, Ronak M., Liu, David, Gonzaga-Jauregui, Claudia, Jhangiani, Shalini, Lu, James T., Sutton, V. Reid, Fernbach, Susan D., Azamian, Mahshid, White, Lisa, Edmond, Jane C., Paysse, Evelyn A., Belmont, John W., Muzny, Donna, Lupski, James R., Gibbs, Richard A., Lewis, Richard Alan, Lee, Brendan H., Lalani, Seema R., Campeau, Philippe M.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Cold Spring Harbor Laboratory Press 2017
Schlagworte:
Research Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5334472/
https://ncbi.nlm.nih.gov/pubmed/28299356
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a000984
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