TY  - GEN 
AU  - Narbona Arias, Isidoro
AU  - Blasco Alonso, Marta
AU  - Monís Rodriguez, Susana
AU  - Gómez Muñoz, Cristina
AU  - González Mesa, Ernesto
AU  - Lubián López, Daniel María
AU  - Jiménez López, Jesús
A4  - Medicina
PY  - 2025
SN  - 2077-0383
UR  - http://hdl.handle.net/10498/39026
AB  - Background/Objectives: Cantú syndrome is a rare autosomal dominant genetic disorder
caused by gain-of-function variants in the ABCC9 or KCNJ8 genes. Although its phenotypic
expression is variable and can go unnoticed postnatally, certain ultrasound...
LA  - eng
PB  - MDPI
KW  - prenatal diagnosis
KW  - Cantú syndrome
KW  - fetal medicine
KW  - trio exome sequencing
KW  - ABCC9 variants
KW  - rare diseases
KW  - variable expressivity
KW  - genetic counseling
KW  - perinatal mental health
TI  - More than a Diagnosis: How Prenatal Identification of Cantú Syndrome Transformed a Family’s Medical Narrative
DO  - https://doi.org/10.3390/jcm14176017
ER  -