Premium
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(s) -
Villarreal Diana D.,
Villarreal Humberto,
Paez Ana Maria,
Peppas Dennis,
Lynch Jane,
Roeder Elizabeth,
Powers George C.
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36553
Subject(s) - hypospadias , frameshift mutation , mutation , medicine , craniosynostosis , genetics , biology , anatomy , gene
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom