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A patient with a unique frameshift mutation in GPC3, causin..:
Villarreal, Diana D.
;
Villarreal, Humberto
;
Paez, Ana Maria
...
American Journal of Medical Genetics Part A. 161 (2013) 12 - p. 3121-3125 , 2013
Link:
https://doi.org/10.1002/ajmg.a.36086
RT Journal 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
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.36086&Exemplar=1&LAN=DE A1 Villarreal, Diana D. A1 Villarreal, Humberto A1 Paez, Ana Maria A1 Peppas, Dennis A1 Lynch, Jane A1 Roeder, Elizabeth A1 Powers, George C. PB Wiley YR 2013 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 161 IS 12 SP 3121 OP 3125 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.36086 DO https://doi.org/10.1002/ajmg.a.36086 SF ELIB - SuUB Bremen
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