Sfoglia per Soggetto "autosomal dominant disorder"
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Acro-osteolysis
(2017)Acro-osteolysis is an osteolysis of the distal phalanges of the hands and feet and can affect the terminal tuft or the shaft of the distal phalanx (transverse or band acro-osteolysis). It is often associated with distal ... -
Hereditary hyperferritinemia cataract syndrome as a cause of childhood hyperferritinemia
(2014)A 2-year-old female was presented with high levels of serum ferritin (890 ng/mL) in a routine blood test. Clinical and laboratory investigations excluded the presence of iron overload and secondary causes of hyperferritinemia. ... -
International consensus on the diagnosis and management of pediatric patients with hereditary angioedema with C1 inhibitor deficiency
(2017)Background: The consensus documents published to date on hereditary angioedema with C1 inhibitor deficiency (C1-INH-HAE) have focused on adult patients. Many of the previous recommendations have not been adapted to pediatric ... -
Mutated α-synuclein gene in two greek kindreds with familial pd: Incomplete penetrance?
(1999)The G209A mutation in the α-synuclein gene has been associated with autosomal dominant PD (ADPD) in a family from Contursi, Italy, and three apparently unrelated Greek families. Several groups around the world failed to ...