ectodermal dysplasia with ectrodactyly and macular dystrophy

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ectodermal dysplasia with ectrodactyly and macular dystrophy

A rare autosomal recessive disorder (OMIM:225280) characterised by early hair loss followed by ectodermal dysplasia (e.g., sparse eyebrows and scalp hair), and selective tooth agenesis with macular dystrophy and ectrodactyly.

Molecular pathology
Defects in CDH3 on chromsome 16q22.1, which encodes a cadherin involved in sorting heterogeneous cell types, cause ectodermal dysplasia with ectrodactyly and macular dystrophy.
References in periodicals archive ?
Also explained is how you can perform administrative tasks based around your requirements before observing the EEM dashboards with real-time data.
Rather than analyzing all potential performance values for each EEM in combination as with the BEopt method, sets of measures are bundled and analyzed at several performance levels.
To qualify for an EEM, potential applicants must first hire a certified Home Energy Rater to inspect and evaluate the home's energy features, prepare a home energy rating and make recommendations for improvements.
By allocating energy costs by department and using automated reports and alarm options to keep staff aware, an EEM system can help everyone actively reduce energy consumption, increase efficiency, and minimize costs within their departments.
An EEM system helps you dynamically respond to curtailment, real time pricing, or high-demand signals with an efficient, automated way of turning on or off non-critical loads (heating, chilled water, etc.
The concept envisions a palette of EEMs that are dynamically task-organized into EMTs to fight discrete engineer engagements and then are reallocated by the engineer mission force (EMF), the headquarters that orchestrates and synchronizes their efforts, as the mission dictates.
Sub-metering across the enterprise and throughout each facility enables the EEM system to accurately track the consumption levels for each building, tenant, department, process or other cost centers.
The Energy Star Homes Program should increase demand for EEMs because it provides important benefits to homebuyers and lenders.
Angela Finet, Millstar's project leader for EEM 1997, said, "We had to find a new compression technology since Unisys began enforcing their patent on TIFF LZW compression, which is what we used last year.
Hara EEM will provide a management platform to support our continued achievements in these areas and facilitate key milestones in our energy and environmental strategies - from data aggregation to the adoption of best practices and policies to increase our energy efficiencies.
Eem wishes to procure and enter into a framework agreement with multiple contractors, for the provision of repairs, servicing and installation works for stairlifts(straight and curved) , hoists and any other types of disabled access equipment located in properties owned by eem members.