Recessive COL25A1 mutations cause isolated congenital ptosis or exotropic Duane syndrome with synergistic divergence

Author:

Khan Arif O.,Al-Mesfer Saleh

Publisher

Elsevier BV

Subject

Ophthalmology,Pediatrics, Perinatology, and Child Health

Reference10 articles.

1. Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder;Shinwari;Am J Hum Genet,2015

2. The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder;Khan;J AAPOS,2014

3. Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance;Tischfield;Cell,2010

4. A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1;Engle;Am J Hum Genet,1997

5. A novel X-linked dominant condition: X-linked congenital isolated ptosis;McMullan;Am J Hum Genet,2000

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