A patient with a unique frameshift mutation in GPC3, causing Simpson-Golabi-Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle
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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
description
im Dezember 2013 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в грудні 2013
@uk
name
A patient with a unique frames ...... and a large prostatic utricle
@en
A patient with a unique frames ...... and a large prostatic utricle
@nl
type
label
A patient with a unique frames ...... and a large prostatic utricle
@en
A patient with a unique frames ...... and a large prostatic utricle
@nl
prefLabel
A patient with a unique frames ...... and a large prostatic utricle
@en
A patient with a unique frames ...... and a large prostatic utricle
@nl
P2093
P2860
P356
P1476
A patient with a unique frames ...... and a large prostatic utricle
@en
P2093
Ana Maria Paez
Dennis Peppas
Diana D Villarreal
Elizabeth Roeder
George C Powers
Humberto Villarreal
Jane Lynch
P2860
P304
P356
10.1002/AJMG.A.36086
P407
P577
2013-12-01T00:00:00Z