Anales de Pediatría (English Edition)

ISSN: 2341-2879

The Spanish Pediatric Association (Asociación Española de Pediatría, AEP) has as one of its main objectives the dissemination of rigorous and up-to-date scientific information on the various areas of pediatrics. Annals of Pediatrics is an open access journal that serves as the Association's Scientific Expression Organ and constitutes the vehicle through which members communicate. Annals of Pediatrics publishes, in English and Spanish, original research papers on pediatrics, as well as review articles prepared by experts in each specialty, and guidelines or positioning documents prepared by the different Societies/Specialized Sections integrated into the Spanish Pediatric Association. The journal, a reference for Spanish-speaking pediatrics, is indexed in the most important international databases: Index Medicus/Medline IBECS, IME, SCOPUS, Science Citation Index Expanded, Journal Citations Report, Embase/Excerpta Medica, Directory of Open Access Journals (DOAJ).

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ORIGINAL BREVE

Síndrome Schinzel-Giedion: nueva mutación en SETBP1

Schinzel-Giedion syndrome: A new mutation in SETBP1

V. López-Gonzáleza,b,

Corresponding author

vanesa.lopez2@carm.es

Autores para correspondencia.

, M.R. Domingo-Jiménezb,c, L. Burglend, M.J. Ballesta-Martíneza,b, S. Whalene, J.A. Piñero-Fernándezf, E. Guillén-Navarroa,b,g

a Sección de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, Murcia, España

b Grupo Clínico Vinculado al Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, España

c Sección de Neuropediatría, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, España

d Centre de Référence Maladies Rares «malformations et maladies congénitales du cervelet», Hôpital Trousseau-Paris, CHU de Lyon, CHU de Lille, París, Francia

e Unité Fonctionnelle de Génétique Clinique, Hôpital Armand Trousseau, Paris, Francia

f Sección de Nefrología Infantil, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, España

g Cátedra de Genética Médica, UCAM-Universidad Católica de Murcia, Murcia, España

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ISSN: 16954033
Original language: Spanish

DOI:10.1016/j.anpedi.2014.06.017

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Year/Month	Html	Pdf	Total

2024 May	102	18	120
2024 April	312	59	371
2024 March	335	86	421
2024 February	387	130	517
2024 January	398	89	487
2023 December	372	69	441
2023 November	290	70	360
2023 October	246	92	338
2023 September	271	73	344
2023 August	206	55	261
2023 July	204	54	258
2023 June	219	70	289
2023 May	257	81	338
2023 April	200	39	239
2023 March	299	56	355
2023 February	256	68	324
2023 January	179	62	241
2022 December	165	38	203
2022 November	216	78	294
2022 October	213	79	292
2022 September	199	65	264
2022 August	145	61	206
2022 July	85	51	136
2022 June	122	51	173
2022 May	158	56	214
2022 April	201	60	261
2022 March	222	86	308
2022 February	226	31	257
2022 January	230	69	299
2021 December	147	81	228
2021 November	203	79	282
2021 October	174	85	259
2021 September	125	82	207
2021 August	170	77	247
2021 July	137	92	229
2021 June	186	69	255
2021 May	162	70	232
2021 April	344	134	478
2021 March	301	80	381
2021 February	151	67	218
2021 January	153	50	203
2020 December	172	41	213
2020 November	158	35	193
2020 October	128	46	174
2020 September	154	44	198
2020 August	155	20	175
2020 July	192	29	221
2020 June	142	32	174
2020 May	145	39	184
2020 April	102	27	129
2020 March	84	26	110
2020 February	118	27	145
2020 January	118	25	143
2019 December	149	31	180
2019 November	109	13	122
2019 October	153	26	179
2019 September	148	19	167
2019 August	116	30	146
2019 July	145	20	165
2019 June	192	32	224
2019 May	363	53	416
2019 April	234	56	290
2019 March	144	30	174
2019 February	167	20	187
2019 January	176	24	200
2018 December	110	31	141
2018 November	202	39	241
2018 October	186	18	204
2018 September	118	22	140
2018 August	23	0	23
2018 July	24	0	24
2018 June	22	0	22
2018 May	25	0	25
2018 April	65	0	65
2018 March	64	0	64
2018 February	78	0	78
2018 January	74	0	74
2017 December	70	0	70
2017 November	115	0	115
2017 October	92	1	93
2017 September	94	0	94
2017 August	55	0	55
2017 July	111	5	116
2017 June	128	39	167
2017 May	145	62	207
2017 April	66	23	89
2017 March	154	34	188
2017 February	266	17	283
2017 January	70	24	94
2016 December	76	19	95
2016 November	222	40	262
2016 October	142	14	156
2016 September	257	37	294
2016 August	205	19	224
2016 July	49	23	72

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