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Autosomal recessive acrorenal syndrome
13
Citations
1
References
1992
Year
Developmental AnomalyThumb HypoplasiaDevelopmental BiologyAutosomal Recessive OriginMendelian DisorderGenetic DisorderGeneticsRenal PathologyGenetic EpidemiologyPathologyMorphogenesisFirst Mendelian FormMedicineOligomeganephronic Renal HypoplasiaEmbryologyClinical Genetics
We describe two sibs with tetraectrodactyly and oligomeganephronic renal hypoplasia. The parents were unaffected. This syndrome of apparently autosomal recessive origin appears to be the first Mendelian form of the acrorenal developmental field defect identified so far.
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