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High-Resolution Genetic Mapping of the Cartilage-Hair Hypoplasia (CHH) Gene in Amish and Finnish Families

โœ Scribed by Tuija Sulisalo; Clair A. Francomano; Pertti Sistonen; Joseph F. Maher; Victor A. McKusick; Albert de la Chapelle; Ilkka Kaitila


Book ID
115612049
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
414 KB
Volume
20
Category
Article
ISSN
0888-7543

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The urofacial (Ochoa) syndrome (UFS) is a rare autosomal recessive disorder characterized by abnormal facial expression and urinary abnormalities. Previously, we mapped the gene to a genomic interval of approximately 1 cM on chromosome region 10q23-24, using families from Columbia. Here we demonstr