4.6 Letter

Leukoencephalopathy caused by a 17p13.3 microdeletion

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller-Dieker syndrome

Elizabeth K. Baker et al.

Summary: Deletion of 17p13.3 has varying degrees of severity on brain development, with the most severe phenotype being Miller-Dieker syndrome (MDS). However, cases of 17p13.3 deletion including YWHAE but not PAFAH1B1 have a consistent phenotype distinct from MDS, characterized by dysmorphic facial features, developmental delay, and leukoencephalopathy.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2023)

Article Clinical Neurology

The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients

Chujun Wu et al.

Summary: This study investigated a cohort of 309 adult patients with suspected genetic leukoencephalopathies (gLEs) and characterized the genetic and phenotypic spectra of gLEs in this population. The most frequently mutated genes were identified.

BRAIN (2023)

Review Clinical Neurology

How to diagnose difficult white matter disorders

Thomas Williams et al.

PRACTICAL NEUROLOGY (2020)

Article Psychology, Clinical

White matter abnormalities in 22q11.2 deletion syndrome patients showing cognitive decline

Jasper Olivier Nuninga et al.

PSYCHOLOGICAL MEDICINE (2018)