autosomal inheritance
National Institutes of Health
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Pachydermoperiostosis or primary hypertrophic osteoarthropathy is a rare disorder with autosomal inheritance. It is characterized…
The pathogenesis of generalized fibromatosis still remains unknown, despite reports on association with estrogen receptors. This…
The synthesis of immunoglobulins seems to be genetically determined, but to our knowledge there have not been any descriptions of…
Primary glenoid dysplasia, although a relatively rare diagnosis, has been well described clinically and published in the…
Isoelectric focusing was used to investigate the genetic variants of the human plasma orosomucoid ORM1 and ORM2 gene loci in…
A son and daughter of unaffected parents had transfusion dependent, pyridoxine-refractory sideroblastic anaemia from birth. Their…
The clinical features and management of genuine hereditary hydronephrosis (GHH) in 4 members of the same family are presented…
Most of the hereditary sideroblastic anaemias are inherited as x-linked recessive traits and are often pyridoxine responsive. The…