Implementation of high‐resolution melting analysis of the porcupine ( PORCN) gene for molecular diagnosis of focal dermal hypoplasia: Identification of a novel mutation-Reference-Cited by-同舟云学术

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Implementation of high‐resolution melting analysis of the porcupine ( PORCN) gene for molecular diagnosis of focal dermal hypoplasia: Identification of a novel mutation

Published:2020-02-16 Issue:5 Volume:22 Page:
ISSN:1099-498X
Container-title:The Journal of Gene Medicine
language:en
Short-container-title:J Gene Med

Author:

Martínez‐Saucedo Mirna¹,Ornelas‐Fuentes Carolina²,Dedden Mark¹,Sánchez‐Urbina Rocío³,Díaz‐García Héctor³,Aquino‐Jarquin Guillermo¹^ORCID,Moreno‐Salgado Rodrigo²,Granados‐Riveron Javier T.¹^ORCID

Affiliation:

1. Laboratory of Research in Genomics, Genetics and BioinformaticsHospital Infantil de México Federico Gómez Mexico City Mexico

2. Department of Medical Genetics and Experimental TeratogenesisHospital Infantil de México Federico Gómez Mexico City Mexico

3. Laboratory of Developmental Biology and Experimental TeratogenesisHospital Infantil de México Federico Gómez, Mexico City México

Funder

Consejo Nacional de Ciencia y Tecnología

Publisher

Wiley

Subject

Genetics(clinical),Drug Discovery,Genetics,Molecular Biology,Molecular Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jgm.3165

Reference20 articles.

1. Mutation update for the PORCN gene

2. Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals

3. WNT secretion and signalling in human disease

4. Porcupine homolog is required for canonical Wnt signaling and gastrulation in mouse embryos

5. Deletion of mouse Porcn blocks Wnt ligand secretion and reveals an ectodermal etiology of human focal dermal hypoplasia/Goltz syndrome

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Discrimination between 34 of 36 Possible Combinations of Three C>T SNP Genotypes in the MGMT Promoter by High Resolution Melting Analysis Coupled with Pyrosequencing Using A Single Primer Set;International Journal of Molecular Sciences;2021-11-20

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