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

Related topics

Related topics

7 relations
Autosomal dominant inheritanceByzanthine arch palateMadelung DeformityMesomelia
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Broader (2)

Growth DisordersOsteochondrodysplasias

Papers overview

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2008
2008
Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri–Weill dyschondrosteosis
AbstractAlthough short-stature homeobox-containing gene (SHOX ) haploinsufficiency is responsible for Léri–Weill… (More)
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2007
2007
SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability.
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
A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.
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
All-digital PLL and transmitter for mobile phones
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
All-digital TX frequency synthesizer and discrete-time receiver for Bluetooth radio in 130-nm CMOS
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
Radiological signs of Leri-Weill dyschondrosteosis in Turner syndrome.
BACKGROUND/AIMS Leri-Weill dyschondrosteosis (LWD), a mesomelic short stature syndrome with Madelung deformity, was recently… (More)
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2001
2001
Histopathological analysis of Leri-Weill dyschondrosteosis: disordered growth plate.
Leri-Weill syndrome (LWS) is a dominant (pseudoautosomal) skeletal dysplasia with mesomelic short stature and bilateral Madelung… (More)
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1999
1999
X/Y translocation in a family with Leri-Weill dyschondrosteosis
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
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis
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
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)
Dyschondrosteosis1 (DCS) is an autosomal dominant2 form of mesomelic dysplasia with deformity of the forearm (Madelung deformity… (More)
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