Disease: Alopecia mental retardation syndrome
- A case of congenital cataracts with hypotrichosis caused by compound heterozygous variants in the LSS gene
- A case of LSS-associated congenital nuclear cataract with hypotrichosis and literature review
- Alopecia areata and thyroid screening in Down syndrome: Leveraging epic cosmos data set
- Autoimmunity in Down's syndrome via cytokines, CD4 T cells and CD11c(+) B cells
- Autoimmunity in Down's syndrome via cytokines, CD4 T cells and CD11c<sup>+</sup> B cells
- Bachmann-Bupp Syndrome
- Case of Olmsted Syndrome with Essential Thrombocytosis Misdiagnosed as Acrodermatitis Enteropathica
- Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
- Clinical and genetic analyses of APMR4 syndrome caused by novel biallelic LSS variants
- Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
- Corrigendum: Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
- Dermatology Life Quality Index survey in patients with Down syndrome and caregivers
- Down Syndrome and Autoimmune Disease
- Dysregulation of the Immune System in a Natural History Study of 1299 Individuals with Down Syndrome
- Encephalocraniocutaneous Lipomatosis
- Endoscopic Optic Nerve Decompression in a Hamamy Syndrome Patient With Bilateral Optic Canal Stenosis
- Evaluation of neurodevelopmental symptoms in 10 cases of neonatal ichthyosis and sclerosing cholangitis syndrome
- Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene and Review of Literature
- Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits
- Prenatal diagnosis of lanosterol synthase deficiency: Fetal ultrasound findings as a window on family genetics
- Treatment of Alopecia Universalis in a Child with Down Syndrome
- Two Japanese patients with Noonan syndrome-like disorder with loose anagen hair 2
- Whole exome sequencing and transcript analysis discover a novel pathogenic splice site mutation in DCAF17 gene underlying Woodhouse-Sakati syndrome
- Woodhouse-Sakati syndrome in an Indian patient with a novel pathogenic variant
- Woodhouse-Sakati Syndrome Presenting With Psychotic Features After Starting Trihexyphenidyl: A Case Report
- Woodhouse-Sakati Syndrome: The New Genetic Variant of DCAF17 In 2 Adult Sisters