STAMBP gene mutation causing microcephaly-capillary malformation syndrome: a recognizable developmental and epileptic encephalopathy.

Subjects

Subjects :

Capillaries abnormalities
Endosomal Sorting Complexes Required for Transport genetics
Humans
Infant
Mutation
Ubiquitin Thiolesterase genetics
Brain Diseases
Microcephaly genetics
Vascular Malformations genetics

Details

Language :

English

ISSN :

1950-6945

Volume :

24

Issue :

3

Database :

MEDLINE

Journal :

Epileptic disorders : international epilepsy journal with videotape

Publication Type :

Academic Journal

Accession number :

35770778

Full Text :

https://doi.org/10.1684/epd.2021.1411