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A patient with a unique frameshift mutation in GPC3, causing Simpson-Golabi-Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle-Am J Med Genet Part A 161A: 3121-3125.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1872, doi. 10.1002/ajmg.a.36553
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- Publication type:
- Article
A patient with a unique frameshift mutation in GPC3, causing Simpson-Golabi-Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3121, doi. 10.1002/ajmg.a.36086
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- Publication type:
- Article
Microhomology Directs Diverse DNA Break Repair Pathways and Chromosomal Translocations.
- Published in:
- PLoS Genetics, 2012, v. 8, n. 11, p. 1, doi. 10.1371/journal.pgen.1003026
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- Publication type:
- Article