1.
Mov Disord
; 38(6): 1118-1119, 2023 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37475611
2.
Clin Case Rep
; 11(4): e7275, 2023 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37113642
RESUMO
Key Clinical Message: The presence of more than one genetic/genomic disorder is not uncommon. It is therefore essential to continuously consider new signs and symptoms over time. Administration of gene therapy could be extremely difficult in particular situations. Abstract: A 9-month-old boy presented to our department for evaluation of developmental delay. We found that he was affected by intermediate junctional epidermolysis bullosa (COL17A1, c.3766 + 1G > A, homozygous), Angelman syndrome (5,5 Mb deletion of 15q11.2-q13.1), and autosomal recessive deafness type 57 (PDZD7, c.883C > T, homozygous).
3.
Clin Genet
; 101(5-6): 575-576, 2022 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35191016