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

Diana D. Villarreal; Humberto Villarreal; Ana Maria Paez; Dennis Peppas; Jane Lynch; Elizabeth Roeder; George C. Powers

doi:10.1002/ajmg.a.36553

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

Diana D. Villarreal, Humberto Villarreal, Ana Maria Paez, Dennis Peppas, Jane Lynch, Elizabeth Roeder, George C. Powers

Producción científica: Comment/debate › revisión exhaustiva

Idioma original	English (US)
Páginas (desde-hasta)	1872
Número de páginas	1
Publicación	American Journal of Medical Genetics, Part A
Volumen	164
N.º	7
DOI	https://doi.org/10.1002/ajmg.a.36553
Estado	Published - jul 2014

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/ajmg.a.36553

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Villarreal, D. D., Villarreal, H., Paez, A. M., Peppas, D., Lynch, J., Roeder, E., & Powers, G. C. (2014). 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. American Journal of Medical Genetics, Part A, 164(7), 1872. https://doi.org/10.1002/ajmg.a.36553

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. / Villarreal, Diana D.; Villarreal, Humberto; Paez, Ana Maria et al.
En: American Journal of Medical Genetics, Part A, Vol. 164, N.º 7, 07.2014, p. 1872.

Producción científica: Comment/debate › revisión exhaustiva

Villarreal, DD, Villarreal, H, Paez, AM, Peppas, D, Lynch, J, Roeder, E & Powers, GC 2014, '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', American Journal of Medical Genetics, Part A, vol. 164, n.º 7, pp. 1872. https://doi.org/10.1002/ajmg.a.36553

Villarreal DD, Villarreal H, Paez AM, Peppas D, Lynch J, Roeder E et al. 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. American Journal of Medical Genetics, Part A. 2014 jul;164(7):1872. doi: 10.1002/ajmg.a.36553

Villarreal, Diana D. ; Villarreal, Humberto ; Paez, Ana Maria et al. / 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. En: American Journal of Medical Genetics, Part A. 2014 ; Vol. 164, N.º 7. pp. 1872.

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