New description of an MRPS2 homozygous patient: Further features to help expend the phenotype.
Eur J Med Genet
; 67: 104889, 2024 Feb.
Article
en En
| MEDLINE
| ID: mdl-38029925
ABSTRACT
Mutated mito-ribosomal protein S2 (MRPS2) was already described in only three subjects, two with sensorineural hearing impairment, mild developmental delay, hypoglycemia, lactic acidemia and combined oxidative phosphorylation system deficiency and another, recently, presenting with a less severe phenotype. In order to expand the phenotype, we describe a new MRPS2 homozygous subject who shows particular features which have not yet been reported initial microcephaly, joint hypermobility and autistic features.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Pérdida Auditiva Sensorineural
/
Microcefalia
Límite:
Humans
Idioma:
En
Revista:
Eur J Med Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2024
Tipo del documento:
Article
País de afiliación:
Francia