A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome-Reference-Cited by-同舟云学术

A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome

Published:2018-09-08 Issue:11 Volume:176 Page:2494-2500
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Abarca Barriga Hugo H.¹²^ORCID,Caballero Nathaly²,Trubnykova Milana¹,Castro-Mujica María del Carmen²,La Serna-Infantes Jorge E.³,Vásquez Flor¹,Hennekam Raoul C.⁴

Affiliation:

1. Department of Genetic & Inborn Errors of Metabolism; Instituto Nacional de Salud del Niño; Lima Peru

2. Human Medicine Faculty; Universidad Ricardo Palma; Lima Peru

3. Department of Anatomical Pathology; Hospital Nacional Guillermo Almenara; Lima Peru

4. Department of Pediatrics and Translational Genetics, Academic Medical Center; University of Amsterdam; Amsterdam The Netherlands

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.40508/fullpdf

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1. Genotype-phenotype profile of global ASPH-associated ectopia lentis and clinical findings from a Chinese cohort;Gene;2024-10

2. A New Case Report of Traboulsi Syndrome: A Literature Review and Insights Into Genotype–Phenotype Correlations;Genes;2024-08-25

3. Traboulsi syndrome without features of Marfan syndrome caused by a novel homozygous ASPH variant associated with a heterozygous FBN1 variant;Ophthalmic Genetics;2023-05-03

4. Traboulsi syndrome: A rare eye disease and its genetic association;TNOA Journal of Ophthalmic Science and Research;2023

5. Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome;European Journal of Medical Genetics;2022-10