Image 1_Identification of a novel, pathogenic CREBBP variant in a patient with Menke-Hennekam syndrome: a Case Report.png

Image 1_Identification of a novel, pathogenic CREBBP variant in a patient with Menke-Hennekam syndrome: a Case Report.png

<p>Menke-Hennekam syndrome (MKHK) is a recently described rare autosomal dominant disorder caused by loss-of-function variants in exon 30 or 31 of CREBBP (CREB-binding protein) or EP300 genes. These genes encode transcriptional coactivators with a key role in chromatin remodeling and regulatio...

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Autor principal: Anna Μaria Anastasiou (22029989) (author)
Otros Autores: Constantia Aristidou (3629138) (author), Athina Theodosiou (3629132) (author), Ludmila Kousoulidou (20783272) (author), Ioannis Papaevripidou (5824325) (author), Angelos Alexandrou (5824322) (author), Paola Evangelidou (3601298) (author), Carolina Sismani (3601283) (author), George A. Tanteles (9315770) (author), Despina Sanoudou (484855) (author), Aristides G. Eliopoulos (10752514) (author)
Publicado: 2025
Materias:
Genetics
Menke-Hennekam syndrome
CREBBP
genetics
case report
variant
Rubinstein-Taybi syndrome
rare disease
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