From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature

[1] Zollino M(2008)On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review Am J Med Genet C: Semin Med Genet 148C 257-269

[2] Murdolo M(2001)First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation Am J Med Genet 99 338-342

[3] Marangi G(2003)Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2 Am J Hum Genet 72 590-597

[4] Pecile V(2005)The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description of a second case Am J Med Genet A 136 175-178

[5] Galasso C(2019)De Novo Truncating Variants in WHSC1 Recapitulate the Wolf-Hirschhorn (4p16.3 Microdeletion) Syndrome Phenotype Genet Med 21 185-188

[6] Mazzanti L(2011)A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features Am J Med Genet Part A 155 2224-2228

[7] Rauch A(2008)Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3 Am J Med Genet Part C 148C 270-274

[8] Schellmoser S(2010)Interstitial microdeletion of 4p16.3: Contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf–Hirschhorn syndrome Am J Med Genet Part A 152A 1028-1032

[9] Kraus C(2013)109 kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome Am J Med Genet A 161A 1465-1469

[10] Dörr HG(2019)De Novo Loss-Of-Function Variants in NSD2 (WHSC1) Associate With a Subset of Wolf-Hirschhorn Syndrome Cold Spring Harb Mol Case Stud 5 a004044-1483

[1] Zollino M(2008)On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review Am J Med Genet C: Semin Med Genet 148C 257-269

[2] Murdolo M(2001)First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation Am J Med Genet 99 338-342

[3] Marangi G(2003)Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2 Am J Hum Genet 72 590-597

[4] Pecile V(2005)The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description of a second case Am J Med Genet A 136 175-178

[5] Galasso C(2019)De Novo Truncating Variants in WHSC1 Recapitulate the Wolf-Hirschhorn (4p16.3 Microdeletion) Syndrome Phenotype Genet Med 21 185-188

[6] Mazzanti L(2011)A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features Am J Med Genet Part A 155 2224-2228

[7] Rauch A(2008)Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3 Am J Med Genet Part C 148C 270-274

[8] Schellmoser S(2010)Interstitial microdeletion of 4p16.3: Contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf–Hirschhorn syndrome Am J Med Genet Part A 152A 1028-1032

[9] Kraus C(2013)109 kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome Am J Med Genet A 161A 1465-1469

[10] Dörr HG(2019)De Novo Loss-Of-Function Variants in NSD2 (WHSC1) Associate With a Subset of Wolf-Hirschhorn Syndrome Cold Spring Harb Mol Case Stud 5 a004044-1483