A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot-Reference-Cited by-同舟云学术

A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot

Published:2017-12-12 Issue:2 Volume:176 Page:426-430
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Alagia Marianna¹,Cappuccio Gerarda¹²^ORCID,Pinelli Michele¹²,Torella Annalaura²³,Brunetti‐Pierri Raffaella⁴,Simonelli Francesca⁴,Limongelli Giuseppe⁵⁶,Oppido Guido⁶,Nigro Vincenzo²³,Brunetti‐Pierri Nicola¹²,

Affiliation:

1. Department of Translational MedicineFederico II UniversityNaplesItaly

2. Telethon Institute of Genetics and Medicine, PozzuoliNaplesItaly

3. Medical GeneticsDepartment of Biochemistry, Biophysics and General PathologyUniversity of Campania ‘Luigi Vanvitelli’NaplesItaly

4. Eye ClinicMultidisciplinary Department of Medical, Surgical and Dental SciencesUniversity of Campania ‘Luigi Vanvitelli’NaplesItaly

5. Department of Cardiothoracic ScienceUniversity of Campania ‘Luigi Vanvitelli’NaplesItaly

6. Monaldi Hospital, AO ColliNaplesItaly

Funder

Fondazione Telethon

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38560

Reference39 articles.

1. Ocular complications in homocystinuria--early and late treated.

2. NovelSMAD4mutation causing Myhre syndrome

3. A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome

4. A Genotype-Phenotype Comparison ofADAMTSL4andFBN1in Isolated Ectopia Lentis

5. Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis

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