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A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).
Am J Med Genet A. 2012 Nov;158A(11):2788-96. doi: 10.1002/ajmg.a.35583. Epub 2012 Sep 18.
Am J Med Genet A. 2012.
PMID: 22991235
Free PMC article.
De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder.
Afifi HH, Abdel-Hamid MS, Eid MM, Mostafa IS, Abdel-Salam GM.
Afifi HH, et al. Among authors: mostafa is.
Pediatr Dermatol. 2016 Mar-Apr;33(2):e109-13. doi: 10.1111/pde.12821. Epub 2016 Feb 12.
Pediatr Dermatol. 2016.
PMID: 26871653
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