Bone marrow failure syndromes are a heterogeneous group of life-threatening disorders characterized by the inability of the bone marrow to make an adequate number of mature blood cells.
Dhanraj S, Matveev A, Li H, Lauhasurayotin S, Jardine L, Cada M, Zlateska B, Tailor CS, Zhou J, Mendoza-Londono R, Vincent A, Durie PR, Scherer SW, Rommens JM, Heon E, Dror Y
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Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.
Simeonova I, Jaber S, Draskovic I, Bardot B, Fang M, Bouarich-Bourimi R, Lejour V, Charbonnier L, Soudais C, Bourdon JC, Huerre M, Londono-Vallejo A, Toledo F
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Mutant mice lacking the p53 C-terminal domain model telomere syndromes.
Oka Y, Hamada M, Nakazawa Y, Muramatsu H, Okuno Y, Higasa K, Shimada M, Takeshima H, Hanada K, Hirano T, Kawakita T, Sakaguchi H, Ichimura T, Ozono S, Yuge K, Watanabe Y, Kotani Y, Yamane M, Kasugai Y, Tanaka M, Suganami T, Nakada S, Mitsutake N, Hara Y, Kato K, Mizuno S, Miyake N, Kawai Y, Tokunaga K, Nagasaki M, Kito S, Isoyama K, Onodera M, Kaneko H, Matsumoto N, Matsuda F, Matsuo K, Takahashi Y, Mashimo T, Kojima S, Ogi T
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Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome.
Huang L, Yang Z, Kirschke CP, Prouteau C, Copin MC, Bonneau D, Pellier I, Coutant R, Miot C, Ziegler A
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Identification of novel compound heterozygous variants in the SLC30A7 (ZNT7) gene in two French brothers with stunted growth, testicular hypoplasia and bone marrow failure.
