Case 1: A small girl with a bird-like face.
Kilic
Sara Sebnem
SS
Department of Paediatrics, Uludag University School of Medicine, Gorukle-Bursa, Turkey. sebnemkl@uludag.edu.tr
D000015:Abnormalities, Multiple / Q000209:etiology; D018797:Cell Cycle Proteins / Q000235:genetics; D002648:Child; D019066:Facies; D005183:Failure to Thrive / Q000209:etiology; D005260:Female; D006801:Humans; D008831:Microcephaly / Q000209:etiology; D049932:Nijmegen Breakage Syndrome / Q000175:diagnosis*; D009687:Nuclear Proteins / Q000235:genetics; D011596:Psychomotor Disorders / Q000209:etiology
D018797:Cell Cycle Proteins; C112156:NBN protein, human; D009687:Nuclear Proteins