A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE-Reference-Cited by-同舟云学术

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A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE

Published:2017-01-19 Issue:1 Volume:17 Page:
ISSN:1471-2431
Container-title:BMC Pediatrics
language:en
Short-container-title:BMC Pediatr

Author:

Hamzeh Abdul Rezzak,Saif Fatima,Nair Pratibha,Binjab Asma Jassim,Mohamed Madiha,Al-Ali Mahmoud Taleb,Bastaki Fatma

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1186/s12887-017-0781-4.pdf

Reference13 articles.

1. Orrico A, Galli L, Cavaliere ML, Garavelli L, Fryns JP, Crushell E, Rinaldi MM, Medeira A, Sorrentino V. Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients. Eur J Hum Genet. 2004;12(1):16–23.

2. Genot E, Daubon T, Sorrentino V, Buccione R. FGD1 as a central regulator of extracellular matrix remodelling--lessons from faciogenital dysplasia. J Cell Sci. 2012;125(Pt 14):3265–70.

3. Gorski JL, Estrada L, Hu C, Liu Z. Skeletal-specific expression of Fgd1 during bone formation and skeletal defects in faciogenital dysplasia (FGDY; Aarskog syndrome). Dev Dyn. 2000;218(4):573–86.

4. Orrico A, Galli L, Clayton-Smith J, Fryns JP. Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia). Eur J Hum Genet. 2011;19(11). doi: 10.1038/ejhg.2011.108 .

5. Teebi AS, Rucquoi JK, Meyn MS. Aarskog syndrome: report of a family with review and discussion of nosology. Am J Med Genet. 1993;46(5):501–9.

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1. FGD1 Variant Associated With Aarskog–Scott Syndrome;Frontiers in Pediatrics;2022-07-14

2. Genetics of FASD: Confounding Rare Craniofacial and Neurodevelopmental Disorders May Identify Ethanol-Sensitizing Genetic Variants of FASD;Fetal Alcohol Spectrum Disorder;2022

3. The Prevalence of Clinical Features in Patients with Aarskog–Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review;Genetics Research;2021-02-02

4. Identification of TAF1, SAT1, and ARHGEF9 as DNA methylation biomarkers for hepatocellular carcinoma;Journal of Cellular Physiology;2019-07-08

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