Disease: Alopecia mental retardation hypogonadism
- <em>PNPLA6</em> Disorders
- A case of congenital lamellar ichthyosis, alopecia universalis and hypohidrosis with psychomotor retardation and epilepsy. Rud syndrome?
- A case of Woodhouse-Sakati syndrome with pituitary iron deposition, cardiac and intestinal anomalies, with a novel mutation in DCAF17
- A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging
- A newly recognized genetic syndrome of tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities
- A newly recognized neuroectodermal syndrome of familial alopecia, anosmia, deafness, and hypogonadism
- A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome
- A novel DCAF17 homozygous mutation in a girl with Woodhouse-Sakati syndrome and review of the current literature
- A novel splice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin
- A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities
- Alopecia and hypotrichosis as characteristic findings in Woodhouse-Sakati syndrome: report of a family with mutation in the C2orf37 gene
- Alopecia-mental retardation syndrome associated with convulsions and hypergonadotropic hypogonadism
- Alopecia/mental retardation syndrome
- ALX4 dysfunction disrupts craniofacial and epidermal development
- An X-linked gene involved in androgenetic alopecia: a lesson to be learned from adrenoleukodystrophy
- Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome: time to review diagnostic criteria?
- Brain MR Imaging Findings in Woodhouse-Sakati Syndrome
- C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients
- Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
- Case Report: A Deletion Variant in the <em>DCAF17</em> Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
- Clinical and biochemical manifestation zinc deficiency in human subjects
- Clinical and biochemical manifestations of zinc deficiency in human subjects
- Clinical manifestations of zinc deficiency
- Clinical Reasoning: Seven-year-old girl with progressive gait difficulties
- Clinical significance and genetics of epidermal ridges--a review of dermatoglyphics
- Clinical, endocrinologic, and biochemical effects of zinc deficiency
- Clinical, endocrinological and biochemical effects of zinc deficiency
- Corrigendum: Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
- Dystonia in the Woodhouse Sakati syndrome: A new family and literature review
- Effect of testosterone metabolites on ABC half-transporter relative gene expression in X-linked adrenoleukodystrophy
- Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature
- Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome
- Expanding on the phenotypic spectrum of Woodhouse-Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar and literature review
- GENETICALLY DETERMINED DISEASES ASSOCIATED WITH PATHOLOGICAL BRAIN IRON ACCUMULATION AND NEURODEGENERATION
- Johnson-McMillin syndrome, a neuroectodermal syndrome with conductive hearing loss and microtia: report of a new case
- Johnson-McMillin syndrome: report of a new case with novel features
- Mental retardation, premature balding, small genitalia, small acra and small patellae in brothers: confirmation of an entity
- Multimodal Evoked Potential Profiles in Woodhouse-Sakati Syndrome
- Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome
- Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome
- Novel inactivating mutations of the DCAF17 gene in American and Turkish families cause male infertility and female subfertility in the mouse model
- Novel splicing-site mutation in DCAF17 gene causing Woodhouse-Sakati syndrome in a large consanguineous family
- Patterns of neurological manifestations in Woodhouse-Sakati Syndrome
- Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene
- Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
- Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype
- Primary hypogonadism, partial alopecia, and Mullerian hypoplasia: report of a third family and review
- Profound mental retardation, characteristic facies with midfacial hypoplasia and premature frontotemporal balding, muscular hypotrophy, and small patellae in two unrelated male patients
- Quantitative Susceptibility Mapping in Woodhouse-Sakati Syndrome
- The Alström syndrome: is it a rare or unknown disease?
- The role of zinc in gastrointestinal and liver disease
- The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
- Three siblings with Woodhouse-Sakati syndrome in an Indian family
- Unknown syndrome: mental retardation with dysmorphic features, early balding, patella luxations, acromicria, and hypogonadism
- Whole exome sequencing and transcript analysis discover a novel pathogenic splice site mutation in DCAF17 gene underlying Woodhouse-Sakati syndrome
- Woodhouse and Sakati syndrome (MIM 241080): report of a new patient
- Woodhouse-Sakati Syndrome
- Woodhouse-Sakati syndrome (WSS): A case report of 3 Saudi sisters with urogenital anomalies
- Woodhouse-Sakati syndrome in a family is associated with a homozygous start loss mutation in the DCAF17 gene
- Woodhouse-Sakati syndrome in an Indian patient with a novel pathogenic variant
- Woodhouse-Sakati syndrome in an Israeli-Arab family presenting with youth-onset diabetes mellitus and delayed puberty
- Woodhouse-Sakati Syndrome Presenting With Psychotic Features After Starting Trihexyphenidyl: A Case Report
- Woodhouse-Sakati syndrome: case report and symptoms review
- Woodhouse-Sakati Syndrome: First report of a Portuguese case
- Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation
- Woodhouse-Sakati Syndrome: The New Genetic Variant of DCAF17 In 2 Adult Sisters
- Writer's Cramp Presentation of Woodhouse-Sakati Syndrome - "Out of the Woods"
- Zinc and copper deficiency, with particular reference to parenteral nutrition
- Zinc deficiency in human subjects
- Zinc in growth and development and spectrum of human zinc deficiency