Mutations in TOMM70 lead to multi-OXPHOS deficiencies and cause severe anemia, lactic acidosis, and developmental delay.
J Hum Genet
; 65(3): 231-240, 2020 Mar.
Article
in En
| MEDLINE
| ID: mdl-31907385
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Acidosis, Lactic
/
Developmental Disabilities
/
Mitochondrial Membrane Transport Proteins
/
Anemia
Type of study:
Prognostic_studies
Limits:
Child
/
Humans
/
Male
Language:
En
Journal:
J Hum Genet
Journal subject:
GENETICA MEDICA
Year:
2020
Document type:
Article
Affiliation country:
Country of publication: