A Swiss (εγδβ)0‐thalassemia patient with a novel 3‐Mb deletion associated with mild mental impairment

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Published in:American journal of hematology 2013-02, Vol.88 (2), p.158-159
Main Authors: Von Kanel, Thomas, Röthlisberger, Benno, Schanz, Urs, Dutly, Fabrizio, Huber, Andreas R., Saller, Elisabeth
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - etiology
Abnormalities, Multiple - physiopathology
Craniofacial Abnormalities
Delayed Diagnosis
Developmental Disabilities - etiology
Developmental Disabilities - physiopathology
Diseases in Twins
DNA, Intergenic - genetics
Facies
Female
Gene Deletion
Hematology
Hemoglobin E - genetics
Hemoglobin E - metabolism
Hemoglobins - genetics
Hemoglobins - metabolism
Humans
Infant, Newborn
Muscular Atrophy - etiology
Muscular Atrophy - physiopathology
Premature Birth
Severity of Illness Index
Switzerland
Thalassemia - diagnosis
Thalassemia - genetics
Thalassemia - physiopathology
Twins, Dizygotic
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subjects Abnormalities, Multiple - etiology
Abnormalities, Multiple - physiopathology
Craniofacial Abnormalities
Delayed Diagnosis
Developmental Disabilities - etiology
Developmental Disabilities - physiopathology
Diseases in Twins
DNA, Intergenic - genetics
Facies
Female
Gene Deletion
Hematology
Hemoglobin E - genetics
Hemoglobin E - metabolism
Hemoglobins - genetics
Hemoglobins - metabolism
Humans
Infant, Newborn
Muscular Atrophy - etiology
Muscular Atrophy - physiopathology
Premature Birth
Severity of Illness Index
Switzerland
Thalassemia - diagnosis
Thalassemia - genetics
Thalassemia - physiopathology
Twins, Dizygotic
title A Swiss (εγδβ)0‐thalassemia patient with a novel 3‐Mb deletion associated with mild mental impairment
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