1.
Clin Genet
; 105(5): 581-583, 2024 05.
Artículo
en Inglés
| MEDLINE
| ID: mdl-38379111
RESUMEN
A case of mosaic MTOR-associated hemimegalencephaly and hypomelanosis of Ito, died at 33 probably because of sudden unexpected death in epilepsy. Assessment of the variant allele fraction (VAF) in different tissues postmortem showed high variability not correlated with clinical features, representing the most detailed assessment of VAFs in different tissues to date.
Asunto(s)
Hipopigmentación , Humanos , Hipopigmentación/genética , Alelos , Autopsia , Serina-Treonina Quinasas TOR
2.
Br J Dermatol
; 191(2): 303-305, 2024 Jul 16.
Artículo
en Inglés
| MEDLINE
| ID: mdl-38623710