Is the Homozygous State for Hereditary Amyloid Neuropathy (HAN) — Type I (Portuguese, Andrade) Incompatible with Early Intrauterine Life?
In a classic definition, an autosomal dominant trait was one that would show the same effect in either the homozygous, or the heterozygous state; nevertheless, experience has been accumulating in medical genetics of a number of autosomal dominant disorders where a dose effect in homozygosity is suspected 1–6, including the Finnish type of hereditary amyloid neuropathy (HAN — type IV)7.
KeywordsMarfan Syndrome Autosomal Dominant Disorder Autosomal Dominant Trait Familial Amyloidotic Polyneuropathy Unaffected Child
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