Two novel cases of biallelic SMPD4 variants with brain structural abnormalities.
Neurogenetics
; 25(1): 3-11, 2024 Jan.
Article
in En
| MEDLINE
| ID: mdl-37882972
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Arthrogryposis
/
Neurodevelopmental Disorders
/
Intellectual Disability
/
Microcephaly
/
Nervous System Malformations
Limits:
Humans
/
Male
Language:
En
Journal:
Neurogenetics
Journal subject:
GENETICA
/
NEUROLOGIA
Year:
2024
Type:
Article
Affiliation country:
Japan