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Author Topic:   McKusick-kaufman syndrome
posted 02-21-2001 04:06 PM     Click Here to See the Profile for leslieb   Click Here to Email leslieb     Edit/Delete Message Reply w/Quote
Clinical and molecular evaluation of patients with McKusick-Kaufman syndrome.
We are enrolling patients for an evaluation at the NIH Clinical Center in Bethesda, MD. Eligible patients will be invited to come to Bethesda (travel expenses paid by us) for a clinical genetic evaluation that will commonly include echocardiography, renal ultrasound, limb radiography, ophthalmology evaluation, and other indicated studies. Molecular analysis will also be performed. All clinical and molecular analysis is free.
If you know of a patient, please contact us for an eligibility determination:
Leslie Biesecker, MD
NIH - National Human Genome Research Institute
Bldg. 49, Rm 4A80
bethesda, MD 20892-4472
Tel: 301-402-2041
Pager: (U.S. only) 1-888-894-0359
fax: 301-402-2170
email: leslieb@helix.nih.gov


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