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.
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 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.
The Energy Star Homes Program should increase demand for EEMs because it provides important benefits to homebuyers and lenders.
s continued leadership in these areas and look forward to the innovative cost-saving and energy-reducing actions they will manage through Hara EEM.
A borrower with a new home can qualify for an EEM if the house was built according to guidelines set by the Energy Star Builder Option Program (BOP), a project of the U.
Nae Eem, who almost did not take part because of a bout of colic the day before the race, was part of the stock whose breeding credentials were submitted to the International Stud Book Committee in 1999, as part of Saudi Arabia's successful application for recognition.
If the borrower elects to have an EEM and add the cost of the energy-efficient improvements to the mortgage, the lender must obtain a report prepared by an independent energy consultant or the Home Energy Rating System verifying the "cost effectiveness" of the installed energy-efficiency measures.