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Rapadilino syndrome

Known as: Radial and patellar aplasia, Radial and patellar hypoplasia 
 
National Institutes of Health

Papers overview

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Review
2015
Review
2015
Rapadilino syndrome is a genetic disease characterized by a characteristic clinical tableau. It is caused by mutations in RECQL4… Expand
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2008
2008
RAPADILINO syndrome is an autosomally resessively inherited condition that belongs to a group of rare syndromes more common in… Expand
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Highly Cited
2006
Highly Cited
2006
Baller-Gerold syndrome (BGS) is a rare autosomal recessive condition with radial aplasia/hypoplasia and craniosynostosis (OMIM… Expand
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2005
2005
BACKGROUND Mutations of the human helicase gene RECQL4 have been identified in a subset of patients with Rothmund-Thomson… Expand
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Highly Cited
2004
Highly Cited
2004
The Rothmund-Thomson syndrome (growth retardation, skin and bone defects, predisposition to cancer) and the RAPADILINO syndrome… Expand
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Highly Cited
2003
Highly Cited
2003
The RECQL4 helicase gene is a member of the RECQL gene family, mutated in some Rothmund-Thomson syndrome (RTS) patients. Other… Expand
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1998
1998
We report on a boy with RAPADILINO syndrome. Including this report seven children with this syndrome have been described. The… Expand
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Review
1992
Review
1992
We report on a boy with severe radial hypoplasia, absent thumbs and patellae, short stature, persistent diarrhea, slender nose… Expand
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1989
1989
A new malformation syndrome is described in a pair of sibs and 3 sporadic patients. The characteristic manifestations are radial… Expand
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