Omar A Abdul-Rahman
Affiliation: University of Mississippi Medical Center
- A new leukocyte hyperadhesion syndrome of delayed cord separation, skin infection, and nephrosisBrittany N Simpson
Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, 2500 North State St, Jackson, MS 39216
Pediatrics 133:e257-62. 2014..The hyperadhesiveness rather than adhesion deficiency of the patient's leukocytes suggests that a novel lesion in a pathway regulating integrin adhesion is responsible for the patient's unique LAD-I-like symptoms. ..
- Hypoplastic glomerulocystic kidney disease and hepatoblastoma: a potential association not caused by mutations in hepatocyte nuclear factor 1betaOmar A Abdul-Rahman
Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, USA
J Pediatr Hematol Oncol 31:527-9. 2009..We propose that hypoplastic glomerulocystic kidney disease and hepatoblastoma represent a possible association, and we excluded mutations in hepatocyte nuclear factor-1beta in our patient as causative of this putative association...
- X-linked creatine transporter deficiency presenting as a mitochondrial disorderSamantha C Hathaway
Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi, USA
J Child Neurol 25:1009-12. 2010..This report looks at the mitochondrial presentation of the creatine transporter deficiency...
- Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challengeAravindhan Veerapandiyan
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA
Am J Med Genet A 155:2186-95. 2011..Therefore, a high index of suspicion is needed to recognize 22q11DS in African-American individuals...
- Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4Omar A Abdul-Rahman
Division of Medical Genetics, Department of Preventive Medicine, University of Mississippi Medical Center, Jackson, MS 39216, USA
Am J Med Genet A 140:1567-72. 2006..Since both LMX1B and TBX4 are involved in a common molecular pathway, it is likely that the causative gene of genitopatellar syndrome functions within the same developmental process...