TY  - JOUR 
AU  - Fernández Marmiesse, Ana
AU  - Pérez-Poyato, M. S.
AU  - Fontalba, A.
AU  - Marco de Lucas, E.
AU  - Martínez, M. T.
AU  - Cabero Pérez, M. J.
AU  - Couce Pico, María Luz
PY  - 2019
SN  - 1471-2350
UR  - http://hdl.handle.net/20.500.11940/15432
AB  - BACKGROUND: Septo-optic dysplasia (SOD), also known as de-Morsier syndrome, is a rare disorder characterized by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain including absence of the...
LA  - eng
KW  - Septum Pellucidum
KW  - Base Sequence
KW  - Humans
KW  - RNA
KW  - Brain
KW  - Genetic Predisposition to Disease
KW  - Optic Nerve
KW  - Infant
TI  - Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report
DO  - 10.1186/s12881-019-0844-5
T2  - BMC Medical Genetics
M2  - 112
KW  - CHUS
KW  - IDIS
VL  - 20
ER  -