Congenital disorders of glycosylation (CDG) are a large family of genetic diseases resulting
from defects in the synthesis of glycans and in the attachment of glycans to other …

Congenital disorders of glycosylation (CDGs) are a rapidly growing group of inherited
disorders caused by defects in the synthesis and processing of the asparagine (ASN)-linked …

The survey summarizes in its first part the current status of knowledge on the Congenital
Disorders of Glycosylation (CDG) with regard to their phenotypic spectrum, diagnostic and …

Waardenburg syndrome (WS; deafness with pigmentary abnormalities) and Hirschsprung's
disease (HSCR; aganglionic megacolon) are congenital disorders caused by defective …

Erythromycin A (EMA) is a potent stimulator of gastrointestinal motor activity. In vitro studies
suggest that it mimics motilin, a peptide that stimulates motor activity in human and in rabbit …

We present, on behalf of EuroGentest and the European Society of Human Genetics,
guidelines for the evaluation and validation of next-generation sequencing (NGS) …

The CGG repeat in the 5′ untranslated region of the fragile X mental retardation 1 gene
(FMR1) exhibits remarkable instability upon transmission from mothers with premutation …

We identified loss-of-function mutations in ATP6V0A2, encoding the a2 subunit of the V-type
H+ ATPase, in several families with autosomal recessive cutis laxa type II or wrinkly skin …

Provision of a molecularly confirmed diagnosis in a timely manner for children and adults
with rare genetic diseases shortens their" diagnostic odyssey," improves disease …

Hereditary lymphedema is a developmental disorder characterized by chronic swelling of
the extremities due to dysfunction of the lymphatic vessels. Two responsible genes have …