E J Lammer
Affiliation: Children's Hospital and Research Center
- Inherited duplication of Xq27.2-->qter: phenocopy of infantile Prader-Willi syndromeE J Lammer
Division of Medical Genetics, Children s Hospital, Oakland, California, USA
Clin Dysmorphol 10:141-4. 2001..2-->qter) at the distal short arm (Xp22.3). The proband has features of the male Prada-Willi syndrome phenotype that have not previously been reported in other males with duplication of Xq27-->qter...
- Autosomal recessive tetralogy of Fallot, unusual facies, communicating hydrocephalus, and delayed language development: a new syndrome?E J Lammer
Division of Medical Genetics, Children s Hospital, Oakland, California, 94609, USA
Clin Dysmorphol 10:9-13. 2001..While several other families have been identified with apparent recessive inheritance of tetralogy of Fallot, the associated malformations in our family suggest a unique, and previously unreported, malformation pattern...
- Genitopatellar syndrome: delineating the anomalies of female genitaliaEdward J Lammer
Division of Medical Genetics, Children s Hospital and Research Center, Oakland, California 94609, USA
Am J Med Genet 111:316-8. 2002..The salient features include severe mental retardation and microcephaly with absence of the corpus callosum, absent/hypoplastic patellae, genital anomalies, and hydronephrosis...