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Suggested Resource for Ladda Zonana Ramer syndrome (GARD)
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx
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More information on your search:
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02/22/2012 09:49 PM
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Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment: a distinct syndrome.
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Am J Med Genet. 1993 Sep 15; 47(4): 550-5
Ladda RL, Zonana J, Ramer JC, Mascari MJ, Rogan PK Brothers were affected with severe congenital contractures, multiple cutaneous manifestations of ectodermal dysplasia, cleft lip/palate, and psychomotor and growth impairment. High resolution prometaphase chromosomes were normal. Molecular studies of DNA markers, closely flanking the X-linked hypohidrotic ectodermal dysplasia locus, did not show evidence of a submicroscopic deletion from the Xq12-q13 region. The parents and a normal sister exhibited none of these findings. This constellation of anomalies appears to represent a unique AR or XLR syndrome.
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