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Autosomal Dominant Disorder

An inherited disorder that manifests when one copy of a mutated gene is present.
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
A novel VCP mutation as the cause of atypical IBMPFD in a Chinese family.
2005
2005
VEGF in idiopathic ILD
Mycobacterium kansasii is the second most common non-tuberculous mycobacterium associated with lung disease in the United States… 
Review
2005
Review
2005
Lessons from familial myeloproliferative disorders.
By definition, myeloproliferative disorders (MPDs) are caused by an acquired somatic mutation of a hematopoietic progenitor/stem… 
Highly Cited
1990
Highly Cited
1990
Genetic heterogeneity in tuberous sclerosis.
1990
1990
Molecular and cytogenetic analysis in two patients with microdeletions of 7p and Greig syndrome: hemizygosity for PGAM2 and TCRG genes.
1990
1990
Ichthyosis Follicularis in Two Girls: An Autosomal Dominant Disorder
Abstract: Ichthyosis follicularis (IF) is a rare disorder of keratinization that has been described primarily in males and… 
Review
1989
Review
1989
Unraveling prion diseases through molecular genetics
1989
1989
Regional and physical mapping studies characterizing the Greig polysyndactyly 3;7 chromosome translocation, t(3;7)(p21.1;p13).
Review
1987
Review
1987
New autosomal dominant branchio‐oculo‐facial syndrome
We observed an autosomal dominant disorder of abnormal upper lip, which resembles a poorly repaired cleft lip, malformed nose… 
1984
1984
Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy. A new syndrome.
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