Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference7 articles.
1. Aarskog syndrome: The changing phenotype with age
2. Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene
3. Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients
4. Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome
5. Prenatal sonographic diagnosis of Aarskog syndrome.
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1. FGD1-related Aarskog–Scott syndrome: Identification of four novel variations and a literature review of clinical and molecular aspects;European Journal of Pediatrics;2024-02-27
2. Introduction to Rare Genetic Disorders;Rare Genetic Disorders;2024
3. FGD1 Variant Associated With Aarskog–Scott Syndrome;Frontiers in Pediatrics;2022-07-14
4. 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
5. Aarskog Syndrome;Encyclopedia of Autism Spectrum Disorders;2021
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