Article
An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.
Cold Spring Harbor molecular case studies - 1 Mar 2017
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
Abstract excerpt
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 defects are frequently associated with this syndrome. Most cases are isolated; however, rare families with autosomal...
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