A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing-Reference-Cited by-同舟云学术

A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing

Published:2017-08-02 Issue:1 Volume:43 Page:
ISSN:1824-7288
Container-title:Italian Journal of Pediatrics
language:en
Short-container-title:Ital J Pediatr

Author:

Macchiaiolo Marina,Barresi Sabina,Cecconi Francesco,Zanni Ginevra,Niceta Marcello,Bellacchio Emanuele,Lazzarino Giacomo,Amorini Angela Maria,Bertini Enrico Silvio,Rizza Salvatore,Contardi Benedetta,Tartaglia Marco,Bartuli Andrea

Publisher

Springer Science and Business Media LLC

Subject

General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13052-017-0383-7.pdf

Reference18 articles.

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2. Mouchegh K, Zikánová M, Hoffmann GF, Kretzschmar B, Kühn T, Mildenberger E, Stoltenburg-Didinger G, Krijt J, Dvoráková L, Honzík T, Zeman J, Kmoch S, Rossi R. Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency. Observation of 6 patients in 4 families. J Pediatr US. 2007;150:57–61.

3. Jurecka A, Jurkiewicz E, Tylki-Szymanska A. Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature. Eur J Pediatr. 2012;171:131–8.

4. McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA. The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20:1297–303.

5. Cordeddu V, Redeker B, Stellacci E, Jongejan A, Fragale A, Bradley TE, Anselmi M, Ciolfi A, Cecchetti S, Muto V, Bernardini L, Azage M, Carvalho DR, Espay AJ, Male A, Molin AM, Posmyk R, Battisti C, Casertano A, Melis D, van Kampen A, Baas F, Mannens MM, Bocchinfuso G, Stella L, Tartaglia M, Hennekam RC. Mutations in ZBTB20 cause primrose syndrome. Nat Genet. 2014;46:815–7.

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