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Page 1
Ectodermal abnormalities in patients with Kabuki syndrome.
Abdel-Salam GM, Afifi HH, Eid MM, El-Badry TH, Kholoussi N. Abdel-Salam GM, et al. Among authors: el badry th. Pediatr Dermatol. 2011 Sep-Oct;28(5):507-11. doi: 10.1111/j.1525-1470.2011.01495.x. Epub 2011 Jun 22. Pediatr Dermatol. 2011. PMID: 21692838
A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.
Abdel-Salam GM, Miyake N, Eid MM, Abdel-Hamid MS, Hassan NA, Eid OM, Effat LK, El-Badry TH, El-Kamah GY, El-Darouti M, Matsumoto N. Abdel-Salam GM, et al. Among authors: el badry th. Am J Med Genet A. 2011 Nov;155A(11):2885-96. doi: 10.1002/ajmg.a.34299. Epub 2011 Oct 11. Am J Med Genet A. 2011. PMID: 21990275
De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features.
Afifi HH, Fukai R, Miyake N, Gamal El Din AA, Eid MM, Eid OM, Thomas MM, El-Badry TH, Tosson AM, Abdel-Salam GM, Matsumoto N. Afifi HH, et al. Among authors: el badry th. Am J Med Genet A. 2015 Oct;167A(10):2418-24. doi: 10.1002/ajmg.a.37185. Epub 2015 May 31. Am J Med Genet A. 2015. PMID: 26033841