Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report.
Clin Case Rep
; 11(4): e7275, 2023 Apr.
Article
em En
| MEDLINE
| ID: mdl-37113642
ABSTRACT
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).
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Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Clin Case Rep
Ano de publicação:
2023
Tipo de documento:
Article