Author:
Orrico Alfredo,Galli Lucia,Cavaliere Maria Luigia,Garavelli Livia,Fryns Jean-Pierre,Crushell Ellen,Rinaldi Maria Michela,Medeira Ana,Sorrentino Vincenzo
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference17 articles.
1. Aarskog D : A familial syndrome of short stature associated with facial dysplasia and genital anomalies. J Pediatr 1970; 77: 856–861.
2. Scott Jr CI : Unusual facies, joint hypermobility, genital anomaly and short stature. A new dysmorphic syndrome; in Bergsma D, McKusick VA, Konigsmark BW (eds): The clinical delineation of birth defects. Baltimore: Williams and Wilkins, 1971; 10: pp 240–246.
3. Pasteris NG, Cadle A, Logie LJ et al: Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor. Cell 1994; 79: 669–678.
4. Zheng Y, Fischer DJ, Santos MF et al: The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor. J Biol Chem 1996; 271: 33169–33172.
5. 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: 573–586.
Cited by
74 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