Síndrome de Wolf-Hirschhorn. Descripción de cinco casos caracterizados por microarrays de polimorfismos de nucleótido único

Cammarata‐Scalisi, Francisco; R, Blanco Lago; P, Barruz Galián; Lapunzina, Pablo; Araque, Dianora; G, Da Silva; Ma, Lacruz-Rengel; Avendaño, Andrea; J, Nevado Blanco

doi:10.5546/aap.2019.e406

Cited by 2 publications

(1 citation statement)

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“…(i) Highlighting a major role of WHSC1 (NSD2) gene in the pathogenesis of the WHS main features (ID, characteristic facies, growth and developmental delay), in fact all these works suggest; that truncating variants on NSD2 gene will lead to atypical clinical manifestations of WHS, not including the epilepsy (Barrie et al, 2019;Boczek et al, 2018;Cammarata-Scalisi et al, 2019;Corrêa et al, 2018;Hirschhorn, 2008;Jiang et al, 2019):…”

Section: A Further Updatementioning

confidence: 99%

International meeting on Wolf‐Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay

Nevado

Zollino

et al. 2019

American J of Med Genetics Pt A

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An International Meeting on Wolf-Hirschhorn Syndrome (WHS)" was held at The University Hospital La Paz in Madrid, Spain (October 13-14, 2017). One hundred and twenty-five people, including physicians, scientists and affected families, attended the meeting. Parent and patient advocates from the Spanish Association of WHS opened the meeting with a panel discussion to set the stage regarding their hopes and expectations for therapeutic advances. In keeping with the theme on therapeutic development, the sessions followed a progression from description of the phenotype and definition of therapeutic endpoints, to definition of genomic changes. These proceedings will review the major points of discussion.4p-, antiepileptic drugs, hepatoadenomas, seizures, WHS

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