Identification of novel mutations in Mexican patients with Aarskog–Scott syndrome-Reference-Cited by-同舟云学术

Identification of novel mutations in Mexican patients with Aarskog–Scott syndrome

Published:2015-02-17 Issue:3 Volume:3 Page:197-202
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Pérez‐Coria Mariana¹,Lugo‐Trampe José J.¹,Zamudio‐Osuna Michell¹,Rodríguez‐Sánchez Iram P.¹,Lugo‐Trampe Angel²,Fuente‐Cortez Beatriz¹,Campos‐Acevedo Luis D.¹,Martínez‐de‐Villarreal Laura E.¹

Affiliation:

1. Departamento de Genética Facultad de Medicina y Hospital Universitario “José E. González” Universidad Autónoma de Nuevo León (UANL) Monterrey Nuevo Leon México

2. Centro Mesoamericano de Estudios en Salud Pública y Desastres Universidad Autónoma de Chiapas (UNACH) Tapachula Chis México

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.132

Reference25 articles.

1. Novel FGD1 mutation underlying Aarskog–Scott syndrome with myopathy and distal arthropathy

2. Exome Sequencing Identifies A Branch Point Variant in Aarskog-Scott Syndrome

3. Fgd1, the Cdc42 guanine nucleotide exchange factor responsible for faciogenital dysplasia, is localized to the subcortical actin cytoskeleton and Golgi membrane

4. The Cdc42 Guanine Nucleotide Exchange Factor FGD1 Regulates Osteogenesis in Human Mesenchymal Stem Cells

5. FGD1 as a central regulator of extracellular matrix remodelling – lessons from faciogenital dysplasia

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