Sensorineural hearing loss is the most frequent sensory deficit of childhood and is of genetic
origin in up to 75% of cases. It has been shown that mutations of the SLC26A4 (PDS) gene …

Cockayne syndrome is an autosomal recessive multisystem disorder characterized principally
by neurological and sensory impairment, cachectic dwarfism, and photosensitivity. This …

Background Over the last few years, array-comparative genomic hybridisation (CGH) has
considerably improved our ability to detect cryptic unbalanced rearrangements in patients with …

Primary ciliary dyskinesia (PCD) is a rare autosomal-recessive respiratory disorder resulting
from defects of motile cilia. Various axonemal ultrastructural phenotypes have been …

Duplications in Xq28 involving MECP2 have been described in patients with severe mental
retardation, infantile hypotonia, progressive spasticity, and recurrent infections. However, it is …

Neural tube defects (NTDs) are severe congenital malformations due to failure of neural tube
formation in early pregnancy. The proof that folic acid prevents NTDs raises the question of …

Background Mutations in the gene encoding mitofusin 2 (MFN2) cause Charcot-Marie-Tooth
disease type 2 (CMT2), with heterogeneity concerning severity and associated clinical …

Congenital neutropenias (CNs) are rare heterogeneous genetic disorders, with about 25%
of patients without known genetic defects. Using whole-exome sequencing, we identified a …

Objectives To analyze the clinical features of hearing impairment and to search for correlations
with the genotype in patients with DFNB1. Design Case series. Setting Collaborative …

Congenital anomalies of the kidney and urinary tract (CAKUT) constitute a major cause of
chronic kidney disease in children and 20% of prenatally detected anomalies. CAKUT …