Background Biotin-responsive basal ganglia disease (BBGD) is an autosomal recessive
neurometabolic disorder. It is characterized by sub acute encephalopathy with confusion …

Meckel-Gruber syndrome (MKS) is a genetically heterogeneous, neonatally lethal
malformation and the most common form of syndromic neural tube defect (NTD). To date …

Joubert syndrome is a congenital brain malformation of the cerebellar vermis and brainstem
with abnormalities of axonal decussation (crossing in the brain) affecting the corticospinal …

We report our results of 1000 diagnostic WES cases based on 2819 sequenced samples
from 54 countries with a wide phenotypic spectrum. Clinical information given by the …

Maintenance of DNA integrity is crucial for all cell types, but neurons are particularly
sensitive to mutations in DNA repair genes, which lead to both abnormal development and …

Cranio-lenticulo-sutural dysplasia (CLSD) is an autosomal recessive syndrome
characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms and skeletal …

Whole-exome sequencing (WES), which analyzes the coding sequence of most annotated
genes in the human genome, is an ideal approach to studying fully penetrant autosomal …

Proteins trafficking through the secretory pathway must first exit the endoplasmic reticulum
(ER) through membrane vesicles created and regulated by the COPII coat protein complex …

Cenani-Lenz syndrome (CLS) is an autosomal-recessive congenital disorder affecting distal
limb development. It is characterized mainly by syndactyly and/or oligodactyly and is now …

Nuclear genetic disorders causing mitochondrial DNA (mtDNA) depletion are clinically and
genetically heterogeneous, and the molecular etiology remains undiagnosed in the majority …