Related Experiment Video
Updated: Jul 20, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Shwachman-Diamond syndrome: UK perspective
1Paediatric Haematology/Oncology Unit, John Radcliffe Hospital, Headington, Oxford, UK. georgina.hall@paediatrics.ox.ac.uk
Abstract:
So much has been added to our knowledge of Shwachman-Diamond syndrome (SDS) since it was last reviewed in this journal some 25 years ago, that there is now an urgent need to bring the condition to the attention of a new generation of paediatricians. SDS, although a rare autosomal recessive disorder, demands wide attention because it features in the differential diagnosis of a number of important childhood diseases. It can be diagnosed in children of all ages, or in adults. SDS most commonly presents in infancy with features of exocrine pancreatic insufficiency, bone marrow dysfunction, and short stature.
More Related Videos
09:16Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
Related Concept Videos
Pedigree Analysis
Pleiotropy
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Incomplete Dominance
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Huntington Disease l: Introduction