Acquired Camptodactyly

Known as: CAMPTODACTYLY, camptodactylia, campylodactyly 
 
National Institutes of Health

Papers overview

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2014
2014
Most reported mutations in the FGFR3 gene are dominant activating mutations that cause a variety of short-limbed bone dysplasias… (More)
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2010
2010
Cold-induced sweating syndrome (CISS), a rare autosomal recessive disorder, is genetically heterogeneous. Deficiency of the CRLF1… (More)
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Highly Cited
2008
Highly Cited
2008
OBJECTIVES Deletion 1p36 syndrome is a recently delineated disorder, considered to be the most common subtelomeric microdeletion… (More)
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2006
2006
Activating mutations of FGFR3, a negative regulator of bone growth, are well known to cause a variety of short-limbed bone… (More)
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2006
2006
Trismus-pseudocamptodactyly syndrome (TPS) is a rare autosomal dominant distal arthrogryposis (DA) characterized by an inability… (More)
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2004
2004
O culodentodigital syndrome (ODD; OMIM 164200) is a congenital disorder characterised by developmental abnormalities of the face… (More)
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2004
2004
We report a case of spinal muscle atrophy type 1 (Werdnig-Hoffman disease) with a complex congenital heart malformation. Heart… (More)
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Review
2003
Review
2003
PURPOSE To report cases of Blau syndrome with a CARD15/Nod2 mutation. DESIGN Observational and interventional case report… (More)
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Highly Cited
1999
Highly Cited
1999
The Silver-Russell syndrome (SRS) is characterised by severe intrauterine growth retardation, with a preserved head circumference… (More)
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1996
1996
This work describes an autosomal recessive syndrome observed over the past 25 years in 17 newborn babies (8 males, 9 females… (More)
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