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- Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability
- Feasibility of Measuring Hair Glucocorticoids as a Potential Biomarker for Chronic Stress in Older Adults With Intellectual Disabilities
- Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
- Four hypotrichosis families with mutations in the gene <i>LSS</i> presenting with and without neurodevelopmental phenotypes
- Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
- Importance of a multi-tiered treatment approach for intellectually and developmentally disabled patients with hidradenitis suppurativa
- Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene
- DICENTRIC CHROMOSOME 14;18 PLUS TWO ADDITIONAL CNVs IN A GIRL WITH MICROFORM HOLOPROSENCEPHALY AND TURNER STIGMATA
- Novel <i>RNF113A</i> Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
- Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature
- Down Syndrome and Autoimmune Disease
- An X-traordinary stroke
- The role of AUTS2 in neurodevelopment and human evolution
- Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in <i>DCAF17</i>: Report of 58 additional patients from Qatar and literature review
- Woodhouse-Sakati syndrome (WSS)
- De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
- Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity
- Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
- Novel association of trichothiodystrophy with autoimmune thyroiditis and autoimmune hemolytic anemia: A case report
- Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
- Role of Phenylalanine and Its Metabolites in Health and Neurological Disorders
- The ITGB6 gene: its role in experimental and clinical biology
- Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
- Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
- Central Precocious Puberty and Sjogren-Larsson Syndrome in a Child: A Rare Case Report
- Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide
- A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the <i>TRPS1</i> Gene
- Pallister-Killian Syndrome
- P326: Cardiovascular features in adult individuals affected with Tatton-Brown-Rahman syndrome
- Global Burden of Skin Disease as Reflected in<i>Cochrane Database of Systematic Reviews</i>