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tRNA splicing endoluclease mutations cause pontocerebellar hypoplasia.Budde BS et al.. (2008)Nature Genetics 40: 1113–1118.
Tsai L-P, Liao H-M, Chen Y-J, Fang J-S, Chen C-H. A novel microdeletion at chromosome 2q31.1-31.2 in a three-generation family presenting duplication of great toes with clinodactyly.Clin Genet 2009: 75: 449–456. © John Wiley & Sons A/S, 2009HOXD gene cluster maps to chromosome 2q31 and plays a...
Slavotinek AM, Moshrefi A, Lopez Jiminez N, Chao R, Mendell A, Shaw GM, Pennacchio LA, Bates MD. Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia.Clin Genet 2009: 75: 429–439. © John Wiley & Sons A/S, 2009Congenital diaphragmatic hernia (CDH) is a...
Pauli S, Pieper L, Häberle J, Grzmil P, Burfeind P, Steckel M, Lenz U, Michelmann HW. Proven germline mosaicism in a father of two children with CHARGE syndrome.Clin Genet 2009: 75: 473–479. © Blackwell Munksgaard, 2009CHARGE syndrome is an autosomal dominant malformation syndrome caused by...
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.Mefford H et al.. (2008)N Eng J Med 359: 1685–1699.
Zhu H, Kartiko S, Finnell RH. Importance of gene–environment interactions in the etiology of selected birth defects.Clin Genet 2009: 75: 409–423. © Blackwell Munksgaard, 2009It is generally understood that both genetic and environmental factors contribute to the highly complex etiology of...
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.Najm J et al.. (2008)Nature Genetics 40: 1065–1067.
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