A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features

[1] Miller DT(2010)Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies Am J Hum Genet 86 749-64

[2] Adam MP(2009)Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects Genet Med 11 139-46

[3] Aradhya S(2009)Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands Eur J Med Genet 52 161-9

[4] Biesecker LG(2004)High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene Am J Hum Genet 75 410-23

[5] Brothman AR(2000)NF1 microdeletion breakpoints are clustered at flanking repetitive sequences Hum Mol Genet 9 35-46

[6] Carter NP(2004)Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2 J Med Genet 41 35-41

[7] Sagoo GS(2012)Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies Am J Hum Genet 91 56-72

[8] Butterworth AS(2005)Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation Am J Hum Genet 76 227-36

[9] Sanderson S(2004)A deletion mutation in the betaA1/A3 crystallin gene (CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family Hum Genet 114 192-7

[10] Shaw-Smith C(2009)Genetics of crystallins: cataract and beyond Exp Eye Res 88 173-89

[1] Miller DT(2010)Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies Am J Hum Genet 86 749-64

[2] Adam MP(2009)Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects Genet Med 11 139-46

[3] Aradhya S(2009)Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands Eur J Med Genet 52 161-9

[4] Biesecker LG(2004)High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene Am J Hum Genet 75 410-23

[5] Brothman AR(2000)NF1 microdeletion breakpoints are clustered at flanking repetitive sequences Hum Mol Genet 9 35-46

[6] Carter NP(2004)Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2 J Med Genet 41 35-41

[7] Sagoo GS(2012)Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies Am J Hum Genet 91 56-72

[8] Butterworth AS(2005)Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation Am J Hum Genet 76 227-36

[9] Sanderson S(2004)A deletion mutation in the betaA1/A3 crystallin gene (CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family Hum Genet 114 192-7

[10] Shaw-Smith C(2009)Genetics of crystallins: cataract and beyond Exp Eye Res 88 173-89