Genetic Disorders and the Fetus. Группа авторов

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      907 907. Terracciano A, Specchio N, Darra F, et al. Somatic mosaicism of PCDH19 mutation in a family with low‐penetrance EFMR. Neurogenetics 2012; 13:341.

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      912 912. Li X, Jiang M, Han W, et al. A novel TNNI2 mutation causes Freeman‐Sheldon syndrome in a Chinese family with an affected adult with only facial contractures. Gene 2013; 527:630.

      913 913. Filipe B, Albuquerque Q, Bik E, et al. APC somatic mosaicism in a patient with Gardner syndrome carrying the E1573X mutation: report of a case. Dis Colon Rectum 2009; 52:1516.

      914 914. Lee JH, Huynh M, Silhavy JL, et al. De novo somatic mutations in components of the PI3K‐AKT3‐mTOR pathway cause of hemi‐megalencephaly. Nat Genet 2012; 44:941.

      915 915. Eyries M, Coulet F, Girerd B, et al. ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension. Clin Genet 2012; 82:173.

      916 916. Pastrello C, Fornasarig M, Pin E, et al. Somatic mosaicism in a patient with Lynch syndrome. Am J Med Genet A 2009; 149A:212.

      917 917. Hsu AP, Sowerwine KJ, Lawrence MG, et al. Intermediate phenotypes in patients with autosomal dominant hyper‐IgE syndrome caused by somatic mosaicism. J Allergy Clin Immunol 2013; 131:1586.

      918 918. Rabin R, Millan F, Cabrera‐Luque J, et al. Intellectual disability due to monoallelic variant in GATAD2B and mosaicism in unaffected parent. Am J Med Genet A 2018; 176(12):2907.

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      920 920. Doisaki S, Muramatsu H, Shimada A, et al. Somatic mosaicism for oncogenic NRAS mutations in juvenile myelomonocytic leukemia. Blood 2012; 120:1485.

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      923 923. Thibodeau IL, Xu J, Li Q, et al. Paradigm of genetic mosaicism and lone atrial fibrillation: physiological characterization of a connexin 43‐deletion mutant identified from atrial tissue. Circulation 2010; 122:236.

      924 924. Amary MF, Damato S, Halai D, et al. Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. Nat Genet 2011; 43:1262.

      925 925. Vissers LE, Fano V, Martinelli D, et al. Whole‐exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D‐2‐hydroxyglutaric aciduria (MC‐HGA). Am J Med Genet A 2011; 155A:2609.

      926 926. Odgerel Z, Sarkozy A, Lee HS, et al. Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. Neuromuscul Disord 2010; 20:438.

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      928 928. Marini M, Bocciardi R, Gimelli S, et al. A spectrum of LMX1B mutations in Nail‐Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents. Genet Med 2010; 12:431.

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      930 930. Goutagny S, Bah AB, Parfait B, et al. Neurofibromatosis type 2 in the elderly population: clinical and molecular features. Am J Med Genet A 2013; 161A:667.

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      932 932. Szuhai K, Jennes I, de Jong D, et al. Tiling resolution array‐CGH shows that somatic mosaic deletion of the EXT gene is causative in EXT gene mutation negative multiple osteochondromas patients. Hum Mutat 2011; 32:e2063.

      933 933. Hague J, Delon I, Brugger K, et al. Male child with somatic