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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… 
National Institutes of Health

Related topics

Related topics

7 relations
Autosomal dominant inheritanceByzanthine arch palateMadelung DeformityMesomelia

Broader (2)

Growth DisordersOsteochondrodysplasias

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2010
Highly Cited
2010
A low energy injection-locked FSK transceiver with frequency-to-amplitude conversion for body sensor applications
An energy-efficient 915MHz FSK transceiver for wireless body sensor network (BSN) applications is implemented in 0.18um CMOS… 
Highly Cited
2009
Highly Cited
2009
A Digital Intensive Fractional-N PLL and All-Digital Self-Calibration Schemes
A digital intensive PLL featuring a digital filter in parallel with an analog feed-forward path and a digital controlled… 
Highly Cited
2008
Highly Cited
2008
A 350 $\mu$ W CMOS MSK Transmitter and 400 $\mu$W OOK Super-Regenerative Receiver for Medical Implant Communications
Recent advances in the medical field are spurring the need for ultra-low power transceivers for wireless communication with… 
2007
2007
The Ionization Fraction of Barnard 68: Implications for Star and Planet Formation
We present a detailed study of the ionization fraction of the Barnard 68 prestellar core, using millimeter H13CO+ and DCO+ lines… 
2006
2006
PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri‐Weill dyschondrosteosis (LWD) probands
Léri‐Weill dyschondrosteosis (LWD) is a skeletal dysplasia characterized by disproportionate short stature and Madelung deformity… 
Highly Cited
2003
Highly Cited
2003
An all-digital PLL for frequency multiplication by 4 to 1022 with seven-cycle lock time
An all-digital phase-locked loop (PLL) circuit in which resolution in the phase detector and digitally controlled oscillator (DCO… 
Highly Cited
2000
Highly Cited
2000
Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome
Léri-Weill syndrome (LWS) or dyschondrosteosis represents a short stature syndrome characterised by the mesomelic shortening of… 
Highly Cited
1999
Highly Cited
1999
Trout use of woody debris and habitat in Wine Spring Creek, North Carolina
Highly Cited
1997
Highly Cited
1997
Low pulmonary diffusing capacity in subjects with acute mountain sickness.
This study was conducted to investigate whether the changes in the pulmonary diffusing capacity found in individuals with acute… 
Review
1966
Review
1966
Dyschondrosteosis. The most common cause of Madelung's deformity.
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