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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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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© Clarivate Analytics, Journal Citation Reports 2022

Impact factor 2022

2.1

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SJR

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SJR 2022

0.274

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SNIP 2022

0.572

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Scientific Letter

First Spanish case of syndromic intellectual disability with dysmorphic facies, seizures, and distal limb anomalies caused by biallelic mutations in the OTUD6B gene

Primer caso español de discapacidad intelectual sindrónica con dismorfia facial, crisis y anomalías de extremidades por mutaciones bialélicas en el gen OTUD6B

María José Sánchez-Solera,b,

Corresponding author

mj.sanchezsolser@gmail.com

Corresponding author at: Sección de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca (HCUVA), IMIB-Arrixaca, El Palmar, Murcia, Spain.

, Ana Teresa Serrano-Antóna,b, Vanesa López-Gonzáleza,b, María Juliana Ballesta Martíneza,b, Encarna Guillén-Navarroa,b

a Sección de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca (HCUVA), IMIB-Arrixaca, El Palmar, Murcia, Spain

b Centro de Investigación Biomédica en Red deEnfermedades Raras (CIBERER), Madrid, Spain

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ISSN: 23412879
Original language: English

DOI:10.1016/j.anpede.2019.03.007

The statistics are updated each day

Year/Month	Html	Pdf	Total

2024 April	34	15	49
2024 March	54	26	80
2024 February	84	32	116
2024 January	42	22	64
2023 December	67	20	87
2023 November	72	31	103
2023 October	54	41	95
2023 September	57	22	79
2023 August	32	16	48
2023 July	63	30	93
2023 June	49	23	72
2023 May	56	27	83
2023 April	39	6	45
2023 March	59	21	80
2023 February	67	20	87
2023 January	48	17	65
2022 December	62	25	87
2022 November	70	34	104
2022 October	67	50	117
2022 September	77	23	100
2022 August	83	40	123
2022 July	94	33	127
2022 June	83	31	114
2022 May	96	38	134
2022 April	56	36	92
2022 March	77	38	115
2022 February	54	18	72
2022 January	69	35	104
2021 December	58	34	92
2021 November	53	38	91
2021 October	64	55	119
2021 September	47	31	78
2021 August	76	61	137
2021 July	53	38	91
2021 June	69	32	101
2021 May	67	36	103
2021 April	105	55	160
2021 March	47	29	76
2021 February	39	13	52
2021 January	47	18	65
2020 December	57	11	68
2020 November	39	13	52
2020 October	25	10	35
2020 September	87	21	108
2020 August	76	16	92
2020 July	66	15	81
2020 June	20	9	29
2020 May	44	18	62
2020 April	101	15	116
2020 March	89	22	111
2020 February	20	22	42

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