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

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 <i>SBDS</i> gene have been found in about 9...

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Bibliographic Details
Main Authors: Ibrahim Taha, Federica De Paoli, Selena Foroni, Susanna Zucca, Ivan Limongelli, Marco Cipolli, Cesare Danesino, Ugo Ramenghi, Antonella Minelli
Format: Article
Language:English
Published: MDPI AG 2022-07-01
Series:Genes
Subjects:
Shwachman-Diamond Syndrome
<i>SBDS</i>
<i>KMT2A</i>
whole-exome sequencing
dual molecular diagnosis
eVai
Online Access:https://www.mdpi.com/2073-4425/13/8/1314

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