title: Homozygous NPHP1 deletions in Egyptian children with nephronophthisis including an infantile onset patient.
authors.forename: Neveen A
authors.initials: NA
authors.lastname: Soliman
authors.forename: Friedhelm
authors.initials: F
authors.lastname: Hildebrandt
authors.forename: Susan J
authors.initials: SJ
authors.lastname: Allen
authors.forename: Edgar A
authors.initials: EA
authors.lastname: Otto
authors.forename: Marwa M
authors.initials: MM
authors.lastname: Nabhan
authors.forename: Ahmed M
authors.initials: AM
authors.lastname: Badr
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins; D004534:Egypt; D005260:Female; D017353:Gene Deletion; D006720:Homozygote; D006801:Humans; D007223:Infant; D052177:Kidney Diseases, Cystic / Q000151:congenital / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D003598:Cytoskeletal Proteins; D008565:Membrane Proteins; C108725:NPHP1 protein, human
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