Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report.

Maria Eugenia Amato,Silvia Ricart,Maria Asunción Vicente,Loreto Martorell,Judith Armstrong,Guerau Fernández Isern,José Manuel Mascaro, Sol Balsells,Itziar Alonso,Mercedes Serrano,Juan Darío Ortigoza-Escobar

Clinical case reports（2023）

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摘要

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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关键词

Angelman syndrome,COL17A1,PDZD7,UBE3A,autosomal recessive deafness type 57,case report,epidermolysis bullosa

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