The inherited osteolyses or'vanishing bone'syndromes are a group of rare disorders of unknown
etiology characterized by destruction and resorption of affected bones. The multicentric …

The syndrome of congenital hypoparathyroidism, mental retardation, facial dysmorphism and
extreme growth failure (HRD or Sanjad-Sakati syndrome; OMIM 241410) is an autosomal …

Medical genetics involves the application of genetic knowledge and technology to specific
clinical and epidemiologic concerns. Using genetics to benefit society requires that …

The ‘vanishing bone’ or inherited osteolysis/arthritis syndromes represent a heterogeneous
group of skeletal disorders characterized by mineralization defects of affected bones and …

Although biallelic mutations in non-collagen genes account for <10% of individuals with
osteogenesis imperfecta, the characterization of these genes has identified new pathways and …

OBJECTIVE Some patients with rickets are resistant to vitamin D and its analogues; we therefore
assessed whether or not normal mineralization could be achieved in the absence of an …

We are at a time where there is a need to exercise power to ensure the health of populations
and at the same time to avoid potential abuses. How are we to ensure that all populations …

NALCN is a conserved cation channel, which conducts a permanent sodium leak current
and regulates resting membrane potential and neuronal excitability. It is part of a large ion …

The autosomal recessive multicentric osteolytic disorders of childhood—Torg, Winchester,
and François syndromes—predominantly affect the carpal, tarsal, and interphalangeal joints, …

The remarkable progress in characterizing the human genome sequence, exemplified by
the Human Genome Project and the HapMap Consortium, has led to the perception that …