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

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

We are at a time of unprecedented increase in knowledge of rapidly changing technology.
Such biotechnology especially when it involves human subjects raises complex ethical, legal, …

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 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 …

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 …

Objectives: To draw attention towards fructose-1, 6-bisphosphatase (FBPase) deficiency as
an important cause of hypoglycemia and lactic acidosis and to implement preventive …

Genetic counseling is the process in which an individual or a family obtains information and
advice about a genetic condition that may affect the individual, his progeny, his relatives, or …

Objectives Morquio syndrome is an autosomal recessive disease and mutations in the N‐acetylgalactosamine
6‐sulfate sulfatase (GALNS) gene cause Morquio type A disease. …

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 …