Identification of a premature stop codon mutation in thePHGDHgene in severe Neu-Laxova syndrome-evidence for phenotypic variability-Reference-Cited by-同舟云学术

Identification of a premature stop codon mutation in thePHGDHgene in severe Neu-Laxova syndrome-evidence for phenotypic variability

Published:2015-04-25 Issue:6 Volume:167 Page:1323-1329
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Mattos Eduardo P.¹²,Silva André Anjos da¹²,Magalhães José Antônio A³⁴,Leite Júlio César L.¹,Leistner-Segal Sandra¹,Gus-Kessler Rejane¹,Perez Juliano Adams⁵,Vedolin Leonardo M.⁵⁴,Torreblanca-Zanca Albertina⁶⁷,Lapunzina Pablo⁶⁸,Ruiz-Perez Victor L.⁷⁸,Sanseverino Maria Teresa V.¹

Affiliation:

1. Medical Genetics Service; Hospital de Clínicas de Porto Alegre; Porto Alegre Rio Grande do Sul Brazil

2. Department of Genetics; Federal University of Rio Grande do Sul; Porto Alegre Rio Grande do Sul Brazil

3. Fetal Medicine Group; Hospital de Clínicas de Porto Alegre; Porto Alegre Rio Grande do Sul Brazil

4. Internal Medicine Department; Federal University of Rio Grande do Sul; Porto Alegre Rio Grande do Sul Brazil

5. Radiology Service; Hospital de Clínicas de Porto Alegre; Porto Alegre Rio Grande do Sul Brazil

6. INGEMM; Instituto de Genética Médica Y Molecular; Hospital Universitario La Paz; Madrid Spain

7. Instituto de Investigaciones Biomédicas; Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid; Madrid Spain

8. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER); Instituto de Salud Carlos III (ISCIII); Madrid Spain

Funder

Spanish Ministry of Science and Innovation

The CIBERER Program of Research on Pediatric diseases (ACCI 2012)

The Brazilian National Council for Research and Development (CNPq)

Hospital de Clínicas de Porto Alegre (FIPE-HCPA)

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36930/fullpdf

Reference22 articles.

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2. Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway;Acuna-Hidalgo;Am J Hum Genet,2014

3. Fetal ultrasonographic detection of hypodontia in the Neu-Laxova syndrome;Bronshtein;J Clin Ultrasound,1993

4. The nonsense-mediated decay RNA surveillance pathway;Chang;Annu Rev Biochem,2007

5. Further comments on the Neu-Laxova syndrome;Curry;Am J Med Genet,1982

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