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WizCase is an independent review site. Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.

Abuzzahab, M. IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation. Kawashima, Y.

Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation. Sanders, S. Multiple recurrent de novo CNVs, including duplications of the 7q Neuron 70 , — Wohlleber, E. Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2pp15 and mild mental retardation.

Stankiewicz, P. Recurrent deletions and reciprocal duplications of 10q Dittwald, P. NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.

Genome Res. Watson, C. The genetics of microdeletion and microduplication syndromes: an update. Genomics Hum. Burnside, R. Vanlerberghe, C. Cox, D. The 15q Sci 16 , — Girirajan, S. A recurrent 16p Papenhausen, P. Lee, C. Copy number variations and clinical cytogenetic diagnosis of constitutional disorders.

Relative burden of large CNVs on a range of neurodevelopmental phenotypes. PLoS Genet. Vermeesch, J. Hawthorne, F. Gibson, J. Extended tracts of homozygosity in outbred human populations. Tanaka, M. Mitochondrial genome variation in eastern Asia and the peopling of Japan. Schaaf, C.

Copy number and SNP arrays in clinical diagnostics. Deciphering Developmental Disorders Study Large-scale discovery of novel genetic causes of developmental disorders. Nature , — Download references. The cooperation of all the subjects that participated in this project, their relatives and all control individuals is greatly acknowledged.

We thank all the members of the Japanese Array Consortium. You can also search for this author in PubMed Google Scholar. Correspondence to Johji Inazawa. Supplementary Information accompanies the paper on Journal of Human Genetics website. Reprints and Permissions. Uehara, D. SNP array screening of cryptic genomic imbalances in Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements.

J Hum Genet 61, — Download citation. Received : 29 September Revised : 30 October Accepted : 20 November Published : 07 January Issue Date : April Anyone you share the following link with will be able to read this content:. Sorry, a shareable link is not currently available for this article.

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