First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog–Scott syndrome
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference13 articles.
1. Unilateral focal polymicrogyria in a patient with classical Aarskog–Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1;Bottani;Am. J. Med. Genet. A.,2007
2. Cdc42 regulates cofilin during the establishment of neuronal polarity;Garvalov;J. Neurosci.,2007
3. Skeletal-specific expression of Fgd1 during bone formation and skeletal defects in faciogenital dysplasia (FGDY; Aarskog syndrome);Gorski;Dev. Dyn.,2000
4. Fgd1, the Cdc42 GEF responsible for faciogenital dysplasia, directly interacts with cortactin and mAbp1 to modulate cell shape;Hou;Hum. Mol. Genet.,2003
5. Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene;Lebel;Clin. Genet.,2002
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1. Novel truncating variants in FGD1 detected in two Danish families with Aarskog–Scott syndrome and myopathic features;American Journal of Medical Genetics Part A;2022-04-07
2. Short Stature Syndromes: Case Series from India;Journal of Pediatric Genetics;2021-04-14
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. Aarskog-Scott syndrome: clinical and molecular characterisation of a family with the coexistence of a novel FGD1 mutation and 16p13.11-p12.3 microduplication;BMJ Case Reports;2020-06
5. Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1;BMC Medical Genomics;2020-05-07
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