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

Research output: Contribution to journal › Comment/debate › peer-review

Original language	English (US)
Pages (from-to)	1872
Number of pages	1
Journal	American Journal of Medical Genetics, Part A
Volume	164
Issue number	7
DOIs	https://doi.org/10.1002/ajmg.a.36553
State	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.
In: American Journal of Medical Genetics, Part A, Vol. 164, No. 7, 07.2014, p. 1872.

Research output: Contribution to journal › Comment/debate › peer-review

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, no. 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. In: American Journal of Medical Genetics, Part A. 2014 ; Vol. 164, No. 7. pp. 1872.

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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

ASJC Scopus subject areas

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