1.
Eur J Med Genet
; 64(11): 104338, 2021 Nov.
Artículo
en Inglés
| MEDLINE
| ID: mdl-34500087
RESUMEN
Mosaic Variegated Aneuploidy Syndrome 2 (MVA2; MIM 614114) is a rare autosomal recessive disorder, characterized by mosaic aneuploidies involving multiple chromosomes and tissues, caused by biallelic pathogenic variants in the CEP57 gene. Only 10 patients have been reported to date. We report two additional non related cases born to Moroccan consanguineous parents, carrying the previously described c.915_925dup11 CEP57 homozygous variant. Common features of these 12 cases include growth retardation, typically of prenatal onset, distinctive facial features, endocrine, cardiovascular and skeletal, abnormalities while malignancies have not been reported. This report describes the phenotypical spectrum of MVA2.
Asunto(s)
Trastornos de los Cromosomas/genética , Proteínas Asociadas a Microtúbulos/genética , Proteínas Nucleares/genética , Fenotipo , Niño , Trastornos de los Cromosomas/patología , Humanos , Masculino , Mosaicismo , Mutación
2.
Am J Med Genet A
; 182(10): 2222-2225, 2020 10.
Artículo
en Inglés
| MEDLINE
| ID: mdl-32808430
3.
San José; Los autores; 1992. 21 p.
Monografía
en Español
| LILACS
| ID: lil-184398