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- Title
Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report.
- Authors
Amato, Maria Eugenia; Ricart, Silvia; Vicente, Maria Asunción; Martorell, Loreto; Armstrong, Judith; Fernández Isern, Guerau; Mascaro, José Manuel; Balsells, Sol; Alonso, Itziar; Serrano, Mercedes; Ortigoza‐Escobar, Juan Darío
- 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. 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).
- Subjects
ANGELMAN syndrome; DEAFNESS; EPIDERMOLYSIS bullosa; SYMPTOMS; DEVELOPMENTAL delay; GENE therapy
- Publication
Clinical Case Reports, 2023, Vol 11, Issue 4, p1
- ISSN
2050-0904
- Publication type
Case Study
- DOI
10.1002/ccr3.7275