Below are the most recent publications written about "Abnormalities, Multiple" by people in Profiles.
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Keen C, Samango-Sprouse C, Dubbs H, Zackai EH. 10-year-old female with intragenic KANSL1 mutation, no KANSL1-related intellectual disability, and preserved verbal intelligence. Am J Med Genet A. 2017 Mar; 173(3):762-765.
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Zollino M, Marangi G, Ponzi E, Orteschi D, Ricciardi S, Lattante S, Murdolo M, Battaglia D, Contaldo I, Mercuri E, Stefanini MC, Caumes R, Edery P, Rossi M, Piccione M, Corsello G, Della Monica M, Scarano F, Priolo M, Gentile M, Zampino G, Vijzelaar R, Abdulrahman O, Rauch A, Oneda B, Deardorff MA, Saitta SC, Falk MJ, Dubbs H, Zackai E. Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients. J Med Genet. 2015 Dec; 52(12):804-14.
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Luo M, Mulchandani S, Dubbs HA, Swarr D, Pyle L, Zackai EH, Spinner NB, Conlin LK. Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies. Am J Med Genet A. 2015 Dec; 167A(12):3091-5.
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Bienstock JL, Birsner ML, Coleman F, Hueppchen NA. Successful in utero intervention for bilateral renal agenesis. Obstet Gynecol. 2014 Aug; 124(2 Pt 2 Suppl 1):413-5.
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Sarig O, Nahum S, Rapaport D, Ishida-Yamamoto A, Fuchs-Telem D, Qiaoli L, Cohen-Katsenelson K, Spiegel R, Nousbeck J, Israeli S, Borochowitz ZU, Padalon-Brauch G, Uitto J, Horowitz M, Shalev S, Sprecher E. Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation. Am J Hum Genet. 2012 Aug 10; 91(2):337-42.
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Johnston DR, Curry JM, Newborough B, Morlet T, Bartoshesky L, Lehman S, Ennis S, O'Reilly RC. Ophthalmologic disorders in children with syndromic and nonsyndromic hearing loss. Arch Otolaryngol Head Neck Surg. 2010 Mar; 136(3):277-80.
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Mahoney MG, Sadowski S, Brennan D, Pikander P, Saukko P, Wahl J, Aho H, Heikinheimo K, Bruckner-Tuderman L, Fertala A, Peltonen J, Uitto J, Peltonen S. Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities. J Invest Dermatol. 2010 Apr; 130(4):968-78.
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Lai-Cheong JE, Parsons M, Tanaka A, Ussar S, South AP, Gomathy S, Mee JB, Barbaroux JB, Techanukul T, Almaani N, Clements SE, Hart IR, McGrath JA. Loss-of-function FERMT1 mutations in kindler syndrome implicate a role for fermitin family homolog-1 in integrin activation. Am J Pathol. 2009 Oct; 175(4):1431-41.
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Dasouki M, Markova D, Garola R, Sasaki T, Charbonneau NL, Sakai LY, Chu ML. Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa. Am J Med Genet A. 2007 Nov 15; 143A(22):2635-41.
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Tabata M, Niinami H, Hirose H, Iwamura T, Koike H, Kajimoto K, Amano A. Anomalous right subclavian artery with ascending aortic aneurysm: a case report. Heart Surg Forum. 2007; 10(6):E436-8.