Ontology highlight
ABSTRACT:
SUBMITTER: Niemann S
PROVIDER: S-EPMC1182269 | biostudies-literature | 2004 Mar
REPOSITORIES: biostudies-literature
Niemann Stephan S Zhao Chengfeng C Pascu Filon F Stahl Ulrich U Aulepp Ute U Niswander Lee L Weber James L JL Müller Ulrich U
American journal of human genetics 20040205 3
Tetra-amelia is a rare human genetic disorder characterized by complete absence of all four limbs and other anomalies. We studied a consanguineous family with four affected fetuses displaying autosomal recessive tetra-amelia and craniofacial and urogenital defects. By homozygosity mapping, the disease locus was assigned to chromosome 17q21, with a maximum multipoint LOD score of 2.9 at markers D17S931, D17S1785, D17SS1827, and D17S1868. Further fine mapping defined a critical interval of approxi ...[more]