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Background
Array‐comparative genomic hybridization (array‐CGH) is a widely used technique to detect copy number variants (CNVs) associated with developmental delay/intellectual disability (DD/ID).
Aims
Identification of genomic disorders in DD/ID.
Materials and methods
We performed a comprehensive array‐CGH investigation of 1,015 consecutive cases with DD/ID and combined literature mining, genetic...
Background and purpose: Duplications of lamin B1 (LMNB1) at 5q23 are implicated in adult‐onset autosomal dominant leukodystrophy (ADLD) having been described in six families with diverse ethnic background but with a homogeneous phenotype. In a large Italian family, we recently identified a variant form of ADLD characterized clinically by absence of the autonomic dysfunction at onset described in...
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