TY  - GEN
AU  - Travessa,André
AU  - Dias,Patrícia
AU  - Rocha,Pedro
AU  - Sousa,Ana Berta
TI  - Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus
SN  - 1875-6263
PY  - 2018///0509
KW  - Adult
KW  - Amniotic Fluid
KW  - chemistry
KW  - Cholestadienols
KW  - analysis
KW  - Chorionic Villi Sampling
KW  - Dehydrocholesterols
KW  - Diagnosis, Differential
KW  - Female
KW  - Holoprosencephaly
KW  - diagnosis
KW  - Homozygote
KW  - Humans
KW  - Karyotype
KW  - Mutation
KW  - Pregnancy
KW  - Prenatal Diagnosis
KW  - methods
KW  - Smith-Lemli-Opitz Syndrome
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.tjog.2017.01.012
ER  -