Leri-Weill dyschondrosteosis

Known as: Leri-Weil syndrome, LWD, DYSCHONDROSTEOSIS 
A bone growth disorder inherited in a pseudoautosomal dominant pattern caused by mutations in the SHOX gene. It is characterized by short long bones… (More)
National Institutes of Health

Papers overview

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2008
2008
AbstractAlthough short-stature homeobox-containing gene (SHOX ) haploinsufficiency is responsible for Léri–Weill… (More)
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2007
2007
OBJECTIVE The frequency of SHOX mutations in children with idiopathic short stature (ISS) has been found to be variable. We… (More)
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Highly Cited
2005
Highly Cited
2005
Leri-Weill dyschondrosteosis (LWD) is a pseudoautosomal dominant disorder characterized by disproportionate short stature and a… (More)
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Highly Cited
2005
Highly Cited
2005
We present the first all-digital PLL and polar transmitter for mobile phones. They are part of a single-chip GSM/EDGE transceiver… (More)
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Highly Cited
2004
Highly Cited
2004
We present a single-chip fully compliant Bluetooth radio fabricated in a digital 130-nm CMOS process. The transceiver is… (More)
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2001
2001
BACKGROUND/AIMS Leri-Weill dyschondrosteosis (LWD), a mesomelic short stature syndrome with Madelung deformity, was recently… (More)
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2001
2001
Leri-Weill syndrome (LWS) is a dominant (pseudoautosomal) skeletal dysplasia with mesomelic short stature and bilateral Madelung… (More)
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1999
1999
An X/Y translocation associated with Leri-Weill dyschondrosteosis (LWD) was detected in a boy and in his mother. FISH analysis… (More)
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Highly Cited
1998
Highly Cited
1998
Leri-Weill Dyschondrosteosis (LWD; OMIM 127300) is a dominantly inherited skeletal dysplasia characterized by disproportionate… (More)
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Highly Cited
1998
Highly Cited
1998
Dyschondrosteosis1 (DCS) is an autosomal dominant2 form of mesomelic dysplasia with deformity of the forearm (Madelung deformity… (More)
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