Clinical and genetic characteristics of Chinese patients with congenital cranial dysinnervation disorders

[1] Chilton JK(2017)Axons get ahead: Insights into axon guidance and congenital cranial dysinnervation disorders Dev Neurobiol 77 861-875

[2] Guthrie S(2014)Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome Ophthalmology 121 1461-1468

[3] MacKinnon S(2021)TUBB3 R262H causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy Hum Genet 140 1709-1731

[4] Oystreck DT(2003)Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1) Nat Genet 35 318-321

[5] Andrews C(2010)Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance Cell 140 74-87

[6] Chan WM(2021)Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development Eur J Hum Genet 29 816-826

[7] Hunter DG(2012)An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation Hum Mol Genet 21 5484-5499

[8] Engle EC(2017)A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction Hum Mol Genet 26 4055-4066

[9] Whitman MC(2001)Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2 Nat Genet 29 315-320

[10] Barry BJ(2008)Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome Science 321 839-843

[1] Chilton JK(2017)Axons get ahead: Insights into axon guidance and congenital cranial dysinnervation disorders Dev Neurobiol 77 861-875

[2] Guthrie S(2014)Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome Ophthalmology 121 1461-1468

[3] MacKinnon S(2021)TUBB3 R262H causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy Hum Genet 140 1709-1731

[4] Oystreck DT(2003)Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1) Nat Genet 35 318-321

[5] Andrews C(2010)Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance Cell 140 74-87

[6] Chan WM(2021)Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development Eur J Hum Genet 29 816-826

[7] Hunter DG(2012)An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation Hum Mol Genet 21 5484-5499

[8] Engle EC(2017)A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction Hum Mol Genet 26 4055-4066

[9] Whitman MC(2001)Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2 Nat Genet 29 315-320

[10] Barry BJ(2008)Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome Science 321 839-843