Chromosome 6 microdeletion in a patient with syndromic congenital cranial dysinnervation disorder

References

1. ↵
   1. Oystreck DT,
   2. Engle EC,
   3. Bosley TM

   (2011) Recent progress in understanding congenital cranial dysinnervation disorders. J Neuroophthalmol 31, 69–77.
2. ↵
   1. Abu-Amero KK,
   2. Bosley TM,
   3. Kondkar AA,
   4. Oystreck DT,
   5. Khan AO

   (2015) CCDD Phenotype Associated with a Small Chromosome 2 Deletion. Semin Ophthalmol, 1–8.
3. ↵
   1. Huber C,
   2. Dias-Santagata D,
   3. Glaser A,
   4. O’Sullivan J,
   5. Brauner R,
   6. Wu K,
   7. et al.

   (2005) Identification of mutations in CUL7 in 3-M syndrome. Nat Genet 37, 1119–1124.
4. ↵
   1. Maksimova N,
   2. Hara K,
   3. Miyashia A,
   4. Nikolaeva I,
   5. Shiga A,
   6. Nogovicina A,
   7. et al.

   (2007) Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts:new population isolate in Asia. J Med Genet 44, 772–778.
5. ↵
   1. Chen CP,
   2. Lin SP,
   3. Liu YP,
   4. Chern SR,
   5. Wu PS,
   6. Chen YT,
   7. et al.

   (2013) 6p21.2-p12.3 deletion detected by aCGH in an 8-year-old girl with cleidocranial dysplasia and developmental delay. Gene 523, 99–102.