Novel clinical findings in the first Egyptian case of Sotos syndrome caused by complete deletion of the NSD1 gene.
Faculty of Medicine, Department of Genetic Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.|Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.
Ebtesam
E
Abdalla
Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.
Oliver
O
Bartsch
Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.
Danuta
D
Galetzka
Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.
Ulrich
U
Zechner
D000365:Age Determination by Skeleton; D002675:Child, Preschool; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics* / Q000503:physiopathology; D004534:Egypt; D005145:Face / Q000503:physiopathology; D017353:Gene Deletion; D057895:Haploinsufficiency; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000503:physiopathology; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D058495:Sotos Syndrome / Q000235:genetics* / Q000503:physiopathology
D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; C113272:NSD1 protein, human