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

Background De novo mutations in PURA have recently been described to cause PURA
syndrome, a neurodevelopmental disorder characterised by severe intellectual disability …

Bohring-Opitz syndrome is characterized by severe intellectual disability, distinctive facial
features and multiple congenital malformations. We sequenced the exomes of three …

We have identified three truncating, two splice-site, and three missense variants at
conserved amino acids in the CUL4B gene on Xq24 in 8 of 250 families with X-linked mental …

Cantú syndrome is characterized by congenital hypertrichosis, distinctive facial features,
osteochondrodysplasia and cardiac defects. By using family-based exome sequencing, we …

Human-imprinting disorders are congenital disorders of growth, development and
metabolism, associated with disturbance of parent of origin-specific DNA methylation at …

Stickler syndrome is an autosomal dominant connective tissue disorder caused by mutations
in different collagen genes. The aim of our study was to define more precisely the phenotype …

Background Jeune asphyxiating thoracic dystrophy (JATD) is a rare, often lethal, recessively
inherited chondrodysplasia characterised by shortened ribs and long bones, sometimes …

The hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome is an autosomal
dominant disorder caused by mutations of the dual zinc finger transcription factor, GATA3 …

The spondylo-meta-epiphyseal dysplasia [SMED] short limb-hand type [SMED-SL] is a rare
autosomal-recessive disease, first reported by Borochowitz et al. in 1993. 1 Since then, 14 …