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)

Access to Document

10.1002/ajmg.a.36553

Cite this

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.

@article{4855045527f640279a7fc00ccf3ab51c,

title = "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",

author = "Villarreal, {Diana D.} and Humberto Villarreal and Paez, {Ana Maria} and Dennis Peppas and Jane Lynch and Elizabeth Roeder and Powers, {George C.}",

year = "2014",

month = jul,

doi = "10.1002/ajmg.a.36553",

language = "English (US)",

volume = "164",

pages = "1872",

journal = "American Journal of Medical Genetics, Part A",

issn = "1552-4825",

publisher = "Wiley-Liss Inc.",

number = "7",

}

TY - JOUR

T1 - 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

T2 - 3121-3125

AU - Villarreal, Diana D.

AU - Villarreal, Humberto

AU - Paez, Ana Maria

AU - Peppas, Dennis

AU - Lynch, Jane

AU - Roeder, Elizabeth

AU - Powers, George C.

PY - 2014/7

Y1 - 2014/7

UR - http://www.scopus.com/inward/record.url?scp=84902449773&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84902449773&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.36553

DO - 10.1002/ajmg.a.36553

M3 - Comment/debate

AN - SCOPUS:84902449773

SN - 1552-4825

VL - 164

SP - 1872

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 7

ER -

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

Access to Document

Other files and links

Cite this