Disease: Aarskog-Scott syndrome
- <em>FGD1</em> Variant Associated With Aarskog-Scott Syndrome
- 9-year follow-up of uncommon cleft palate in Aarskog-Scott syndrome
- A novel frameshift mutation in the <em>FGD1</em> gene causing Aarskog-Scott syndrome patient with hypogonadism: a case report
- A novel frameshift mutation in the FGD1 gene causing Aarskog-Scott syndrome patient with hypogonadism: a case report
- A novel missense variant of <em>FGD1</em> disrupts critical cysteine residues of the FYVE domain in Japanese siblings with Aarskog-Scott syndrome
- A novel missense variant of FGD1 disrupts critical cysteine residues of the FYVE domain in Japanese siblings with Aarskog-Scott syndrome
- A novel truncating variant in the FGD1 gene associated with Aarskog-Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly
- Aarskog-scott syndrome (AAS): a case report
- Aarskog-Scott syndrome and atopic dermatitis successfully treated with dupilumab: a casual presentation?
- Anaesthetic considerations in Aarskog Scott Syndrome: A syndrome new to our understanding
- Analysis of FGD1 gene variant in a child with Aarskog-Scott syndrome
- Aortic root aneurysm in a patient with Aarskog-Scott syndrome
- Case Report: Aarskog-scott syndrome caused by FGD1 gene variation: A family study
- FGD1 Variant Associated With Aarskog-Scott Syndrome
- FGD1-related Aarskog-Scott syndrome: Identification of four novel variations and a literature review of clinical and molecular aspects
- Multidisciplinary neurocutaneous syndrome clinics: a systematic review and institutional experience
- Novel truncating variants in FGD1 detected in two Danish families with Aarskog-Scott syndrome and myopathic features
- Pediatric cervical kyphosis in the MRI era (1984-2008) with long-term follow up: literature review
- Prenatal ultrasound signs of Aarskog-Scott syndrome in a twin pregnancy: A case report
- Radiation Necrosis with Proton Therapy in a Patient with Aarskog-Scott Syndrome and Medulloblastoma
- The Prevalence of Clinical Features in Patients with Aarskog-Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review
- Velopharyngeal Characteristics in Aarskog-Scott Syndrome: A Case Report