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Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.

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Title: Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.
Authors: Nevado J; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; ITHACA-European Reference Network, Hospital La Paz, Madrid, Spain., García-Miñaúr S; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; ITHACA-European Reference Network, Hospital La Paz, Madrid, Spain., Palomares-Bralo M; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; ITHACA-European Reference Network, Hospital La Paz, Madrid, Spain., Vallespín E; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; ITHACA-European Reference Network, Hospital La Paz, Madrid, Spain., Guillén-Navarro E; Hospital Virgen de la Arrixaca, Murcia, Spain., Rosell J; Hospital Son Espases, Palma de Mallorca, Spain., Bel-Fenellós C; Departamento de Investigación y Psicología en Educación, Facultad de Educación, UCM, Madrid, Spain.; CEE Estudio-3, Afanias, Madrid, Spain., Mori MÁ; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; ITHACA-European Reference Network, Hospital La Paz, Madrid, Spain., Milá M; Hospital Clinic, Barcelona, Spain., Del Campo M; Hospital Vall D'Hebron, Barcelona, Spain., Barrúz P; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain., Santos-Simarro F; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; ITHACA-European Reference Network, Hospital La Paz, Madrid, Spain., Obregón G; Hospìtal Juan P. Garrahan, Buenos Aires, Argentina., Orellana C; Hospital La Fé, Valencia, Spain., Pachajoa H; Universidad Icesi, Cali, Colombia., Tenorio JA; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; ITHACA-European Reference Network, Hospital La Paz, Madrid, Spain., Galán E; Hospital Materno-Infantil Infanta Cristina, Badajoz, Spain., Cigudosa JC; NIM-Genetics Madrid, Alcobendas, Spain., Moresco A; Hospìtal Juan P. Garrahan, Buenos Aires, Argentina., Saleme C; Maternity Nuestra Señora de la Merced, Tucumán, Argentina., Castillo S; Sección Genética, Hospital Clínico Universidad de Chile, Santiago, Chile.; Clínica Alemana, Santiago, Chile., Gabau E; Corporación Sanitaria Parc Taulí, Barcelona, Spain., Pérez-Jurado L; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Servicio de Genética, Instituto de Investigaciones Médicas Hospital del Mar (IMIM)/Universitat Pompeu Fabra, Barcelona, Spain., Barcia A; Hospital Universitario Virgen del Rocío, Sevilla, Spain., Martín MS; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain., Mansilla E; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; ITHACA-European Reference Network, Hospital La Paz, Madrid, Spain., Vallcorba I; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; ITHACA-European Reference Network, Hospital La Paz, Madrid, Spain., García-Murillo P; Unidad de Genética, Hospital Virgen de la Salud, Toledo, Spain., Cammarata-Scalisi F; Servicio de Pediatría, Hospital Regional de Antofagasta, Antofagasta, Chile., Gonçalves Pereira N; Clínica Reprodutiva NIDUS, Juiz de Fora, Brasil., Blanco-Lago R; Servicio de Neuropediatría, Hospital Universitario Central de Asturias, Oviedo (Asturias), Spain., Serrano M; Unidad de Neuropediatría, Hospital San Joan de Deu, Barcelona, Spain., Ortigoza-Escobar JD; Unidad de Neuropediatría, Hospital San Joan de Deu, Barcelona, Spain., Gener B; Hospital Universitario de Cruces, Bilbao, Spain., Seidel VA; Servicio de Genética Clínica, Hospital Universitario Gregorio Marañon, Madrid, Spain., Tirado P; Servicio de Neuropediatría, Hospital Universitario La Paz, Madrid, Spain., Lapunzina P; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; ITHACA-European Reference Network, Hospital La Paz, Madrid, Spain.
Corporate Authors: Spanish PMS Working Group
Source: Frontiers in genetics [Front Genet] 2022 Apr 12; Vol. 13, pp. 652454. Date of Electronic Publication: 2022 Apr 12 (Print Publication: 2022).
Publication Type: Journal Article
Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE
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