Nail dysplasia

Known as: Dysplastic nails, Onychodysplasia 
The presence of developmental dysplasia of the nail. [HPO:probinson]
National Institutes of Health

Topic mentions per year

Topic mentions per year

1949-2018
0246819492017

Papers overview

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2012
2012
Disproportionate short stature refers to a heterogeneous group of hereditary disorders that are classified according to their… (More)
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2007
Highly Cited
2007
Odonto-onycho-dermal dysplasia is a rare autosomal recessive syndrome in which the presenting phenotype is dry hair, severe… (More)
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2007
2007
The nail-patella syndrome (NPS) is a rare autosomal-dominant disorder which is caused by loss-of-function mutations in the… (More)
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2005
2005
Nail-patella syndrome (NPS) is an autosomal dominant disease characterized by dysplastic nails, absent or hypoplastic patellae… (More)
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2004
2004
Several ectodermal dysplasia syndromes have been shown to result from mutations in the gene that encodes the transcription factor… (More)
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Highly Cited
2000
Highly Cited
2000
Ellis-van Creveld syndrome (EvC, MIM 225500) is an autosomal recessive skeletal dysplasia characterized by short limbs, short… (More)
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1999
1999
Nail-Patella syndrome, or osteo-onychodysplasia, is an autosomal dominant disorder characterized by nail dysplasia, absent or… (More)
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1998
1998
Margarita Island ectodermal dysplasia (ED4) is an autosomal recessive disorder characterized by unusual facies, dental anomalies… (More)
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1993
1993
We describe a family with at least seven living persons who are affected by an hitherto undescribed autosomal-dominant syndrome… (More)
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1988
1988
Hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) is an autosomal dominant condition characterised by nail dysplasia… (More)
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