3 rezultate
The autosomal recessive multiple pterygium syndromes are a heterogeneous group of disorders in which multiple joint contractures are associated with cutaneous webbing. Recently, we evaluated a 33 week gestation male in whom multiple pterygia were one feature of a broader pattern of malformation.
BACKGROUND
Pacific people suffer disproportionately poorer health and reduced life expectancy at birth compared to the total New Zealand population.
OBJECTIVE
To assess causes of excess morbidity in the Pacific population, and identify lesser known or previously unknown causes which require further
The ryanodine receptor 1 (RYR1) is a calcium release channel essential for excitation-contraction coupling in the sarcoplasmic reticulum of skeletal muscles. Dominant variants in the RYR1 have been well associated with the known pharmacogenetic ryanodinopathy and malignant hyperthermia. With the era