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The patient, Abigail, and her mother, are both considered to be suffering from cartilage-hair hypoplasia, a type of dwarfism.
He was born with cartilage-hair hypoplasia, a form of dwarfism that stunts growth, but allows for proportional development.
It is associated with Cartilage-hair hypoplasia.
Three rare causes of dwarfism are included in the Finnish heritage: cartilage-hair hypoplasia, diastrophic dysplasia and Mulibrey nanism.
Complete insufficiency of T cell function can result from hereditary conditions such as severe combined immunodeficiency (SCID), Omenn syndrome, and Cartilage-hair hypoplasia.
Mutations in the gene for RNase MRP are associated with cartilage-hair hypoplasia (CHH), a recessive pleiotropic human genetic disorder [ 11 ] .
Mutations within RNase MRP have been shown to cause cartilage-hair hypoplasia, a disease associated with an array of symptoms such as short stature, sparse hair, skeletal abnormalities and a suppressed immune system that is frequent among Amish and Finnish.
Cartilage-Hair Hypoplasia CHH ESS None McKusick type metaphyseal chondrodysplasia, also known as cartilage-hair hypoplasia, is a rare progressive inherited disorder characterized by unusually fine, sparse hair and short stature with abnormally short arms and legs (short-limbed dwarfism).