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autosomal recessive trait

 
National Institutes of Health

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Review
2004
Review
2004
  • E. Haneke
  • Human Genetics
  • 2004
  • Corpus ID: 28451613
SummaryThe Papillon-Lefèvre syndrome (PLS) is an autosomal recessive trait characterized by diffuse transgredient palmar-plantar… Expand
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Highly Cited
2003
Highly Cited
2003
WHIM syndrome is an immunodeficiency disease characterized by neutropenia, hypogammaglobulinemia and extensive human… Expand
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2003
2003
Hydatidiform mole (HM) is an uncommon type of pregnancy, typically resulting from a diandric conception. HM may be defined as… Expand
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Highly Cited
2002
Highly Cited
2002
Cavalier King Charles Spaniels (CKCS) often have idiopathic asymptomatic thrombocytopenia. In affected dogs, the thrombocytes… Expand
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Highly Cited
2000
Highly Cited
2000
OBJECTIVE Mutations in the GJB2 gene are a major cause of autosomal recessive and sporadic types of congenital deafness. The… Expand
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Highly Cited
1996
Highly Cited
1996
Primary congenital glaucoma (gene symbol: GLC3) is an ocular disorder that occurs for 0.01-0.04% of blind people. In the majority… Expand
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Highly Cited
1988
Highly Cited
1988
Limb-girdle muscular dystrophy is a syndrome of progressive myopathic weakness affecting shoulder and hip girdle and proximal arm… Expand
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Highly Cited
1984
Highly Cited
1984
Lamellar ichthyosis (nonbullous congenital ichthyosis) has been explained as an autosomal recessive trait. We have found an… Expand
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1976
1976
A intermarried consanguineous family with split‐hand and ‐foot deformity occurring in two sibship is presented. Both the sibship… Expand
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1971
1971
Description is given of two sisters, offspring of a first cousin marriage, who exhibited the following identical lesions: 1… Expand
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