Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases

RESEARCH

Oral disorders in children with Prader-Willi syndrome: a case control study

Carla Munné-Miralvés, Lluís Brunet-Llobet, Abel Cahuana-Cárdenas, Sergi Torné-Durán, Jaume Miranda-Rius and Alejandro Rivera-Baró

Orphanet Journal of Rare Diseases 2020, 15:43 | Published on: 10 February 2020

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RESEARCH

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

Roser Urreizti, Estrella Lopez-Martin, Antonio Martinez-Monseny, Montse Pujadas, Laura Castilla-Vallmanya, Luis Alberto Pérez-Jurado, Mercedes Serrano, Daniel Natera-de Benito, Beatriz Martínez-Delgado, Manuel Posada-de-la-Paz, Javier Alonso, Purificación Marin-Reina, Mar O’Callaghan, Daniel Grinberg, Eva Bermejo-Sánchez and Susanna Balcells

Orphanet Journal of Rare Diseases 2020, 15:44 | Published on: 10 February 2020

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