Methods. The collection of national data was based on a detailed knowledge of the local
health care system. In Oman there is a uniform system of referral from Primary Health Care …

We investigated eight families with a novel subtype of congenital generalized lipodystrophy (CGL4)
of whom five members had died from sudden cardiac death during their teenage …

Homozygous loss-of-function mutations in the transcription factor LHX3 have been associated
with hypopituitarism with structural anterior pituitary defects and cervical abnormalities …

Background Various genetic defects cause autism associated with intellectual disability and
epilepsy. Here, we set out to identify the genetic defect in a consanguineous Omani family …

High-throughput sequencing has greatly facilitated the elucidation of genetic disorders, but
compared with X-linked and autosomal dominant diseases, the search for genetic defects …

The autosomal recessive form of Robinow syndrome (RRS; MIM 268310) is a severe
skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine, …

Common diseases are often complex because they are genetically heterogeneous, with
many different genetic defects giving rise to clinically indistinguishable phenotypes. This has …

Orofaciodigital syndrome (OFD) is a recognized clinical entity with core defining features in
the mouth, face, and digits, in addition to various other features that have been proposed to …

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 …

… We performed linkage studies in families with Escobar syndrome and identified eight
mutations within the g-subunit gene (CHRNG) of the AChR. Our functional studies show that g-…