Confirmation and Expansion of the Phenotype Associated with the Recurrent p.Val837Met Variant in TRPM3.
Eur J Med Genet
; 63(8): 103942, 2020 Aug.
Article
en En
| MEDLINE
| ID: mdl-32439617
ABSTRACT
Dyment et al. (2019) recently reported eight novel patients with intellectual disability and epilepsy associated with heterozygous de novo missense variants in TRPM3. We report a novel patient with the same recurrent de novo missense of TRPM3 found in seven of these eight cases, p.(Val837Met), providing an emphasis towards ocular and joints defects along with a non-mandatory epilepsy.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Fenotipo
/
Anomalías Craneofaciales
/
Mutación Missense
/
Epilepsia
/
Canales Catiónicos TRPM
/
Discapacidad Intelectual
Tipo de estudio:
Risk_factors_studies
Límite:
Child, preschool
/
Female
/
Humans
Idioma:
En
Revista:
Eur J Med Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2020
Tipo del documento:
Article