Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report.
Maria Eugenia AmatoSilvia RicartMaria Asunción VicenteLoreto MartorellJudith ArmstrongGuerau Fernández IsernJosé Manuel MascaroSol BalsellsItziar AlonsoMercedes SerranoJuan Dario Ortigoza-EscobarPublished in: Clinical case reports (2023)
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).