Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene

Introduction. Shwachman-Diamond Syndrome (SDS) is an autosomal-recessive disorder characterized by neutropenia, pancreatic exocrine insufficiency, skeletal dysplasia, and an increased risk for leukemic transformation. Biallelic mutations in the SBDS gene have been found in about 90% of patients. The...

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Detalles Bibliográficos
Autores principales: Taha, Ibrahim, De Paoli, Federica, Foroni, Selena, Zucca, Susanna, Limongelli, Ivan, Cipolli, Marco, Danesino, Cesare, Ramenghi, Ugo, Minelli, Antonella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9394309/
https://www.ncbi.nlm.nih.gov/pubmed/35893049
http://dx.doi.org/10.3390/genes13081314

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