Dent disease is a rare X‐linked tubulopathy characterized by low molecular weight
proteinuria, hypercalciuria, nephrocalcinosis and/or nephrolithiasis, progressive renal …

Type 2 collagen disorders encompass a diverse group of skeletal dysplasias that are
commonly associated with orthopedic, ocular, and hearing problems. However, the …

Pierre Robin sequence (PRS) is an important subgroup of cleft palate. We report several
lines of evidence for the existence of a 17q24 locus underlying PRS, including linkage …

We used an exome-sequencing strategy and identified an allelic series of NOTCH2
mutations in Hajdu-Cheney syndrome, an autosomal dominant multisystem disorder …

Excessive growth of terminal hair around the elbows (hypertrichosis cubiti) has been
reported both in isolation and in association with a variable spectrum of associated …

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

Background and Objectives ATP1A3 is associated with a broad spectrum of predominantly
neurologic disorders, which continues to expand beyond the initially defined phenotypes of …

A series of 117 cases of Pierre Robin Sequence are classified as isolated (48%), syndromic
(35%), and with associated anomalies (17%); the latter group had a poor long-term …

Background MicroRNAs (miRNAs) are non-coding gene transcripts involved in post-
transcriptional regulation of genes. Recent studies identified miRNAs as important …

Background: Oesophageal atresia (OA) and mandibulofacial dysostosis (MFD) are two
congenital malformations for which the molecular bases of syndromic forms are being …