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WAARDENBURG SYNDROME, TYPE 4A

Known as: Waardenburg-Shah Syndrome, SHAH-WAARDENBURG SYNDROME, WS4A 
A rare, autosomal dominant or autosomal recessive syndrome caused by mutations in the SOX10, EDN3, or EDNRB genes. It is characterized by pigmentary… 
National Institutes of Health

Related topics

Related topics

8 relations
Autosomal dominant inheritanceAutosomal recessive inheritanceGenetic HeterogeneitySOX10 gene

Broader (2)

Hirschsprung DiseaseWaardenburg Syndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
Mirror, Mirror 2017: International Comparison Reflects Flaws and Opportunities for Better U.S. Health Care
ISSUE: The United States health care system spends far more than other high-income countries, yet has previously documented gaps… 
Highly Cited
2009
Highly Cited
2009
Photoacoustic imaging and spectroscopy
Photoacoustics Photoacoustic Monopole Radiation: Waves from Objects with Symmetry in One, Two, and Three Dimensions, Gerald. J… 
Highly Cited
2009
Highly Cited
2009
Photoacoustic imaging and spectroscopy
Photoacoustics Photoacoustic Monopole Radiation: Waves from Objects with Symmetry in One, Two, and Three Dimensions, Gerald. J… 
Highly Cited
2009
Highly Cited
2009
Trend and status of air quality at three different monitoring stations in the Klang Valley, Malaysia
Over the last decades, the development of the Klang Valley (Malaysia), as an urban commercial and industrial area, has elevated… 
Highly Cited
2009
Highly Cited
2009
Language switching in the bilingual brain: What’s next?
Review
2007
Review
2007
In Vivo Methods for the Assessment of Topical Drug Bioavailability
This paper reviews some current methods for the in vivo assessment of local cutaneous bioavailability in humans after topical… 
Highly Cited
2002
Highly Cited
2002
SLUG (SNAI2) deletions in patients with Waardenburg disease.
Waardenburg syndrome (WS; deafness with pigmentary abnormalities) is a congenital disorder caused by defective function of the… 
Highly Cited
2001
Highly Cited
2001
Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10.
Mutations in SOX10, a transcription modulator crucial in the development of the enteric nervous system (ENS), melanocytes and… 
Highly Cited
1998
Highly Cited
1998
Equity Carve‐Outs and Managerial Discretion
This study proposes a managerial discretion hypothesis of equity carve-outs in which managers value control over assets and are… 
Highly Cited
1993
Highly Cited
1993
New Horizons in Nitrogen Fixation
this volume) to become associated with apodinitrogenase. The role of general chaperonins in promoting accumulation of nif gene… 
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