Disease: Sakati syndrome
- A case of severe TBCE-negative hypoparathyroidism-retardation-dysmorphism syndrome: Case report and literature review
- 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 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 recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene
- A Staghorn Calcium Phosphate Stone in a Child With Sanjad-Sakati Syndrome: An Iatrogenic Manifestation?
- Additional Tunisian patients with Sanjad-Sakati syndrome: A review toward a consensus on diagnostic criteria
- Alopecia and hypotrichosis as characteristic findings in Woodhouse-Sakati syndrome: report of a family with mutation in the C2orf37 gene
- Anesthetic management of a case of Sanjad-Sakati syndrome
- Autoimmune thyroiditis associated with Sanjad-Sakati syndrome: A call for regular thyroid screening
- 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
- Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
- Case report: Sanjad--Sakati syndrome: dental findings and treatment
- Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad-Sakati syndrome
- Clinical Reasoning: Seven-year-old girl with progressive gait difficulties
- Combined TSC1 and LMX1B mutations in a single patient
- Corneal opacification in Sanjad-Sakati syndrome
- Correcting hypophosphataemia in a paediatric patient with Sanjad-Sakati syndrome through a single oral dose of potassium phosphate intravenous solution
- Corrigendum: Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
- Deep Brain Stimulation in Rare Inherited Dystonias
- Dental Management of a Tunisian Child with Sanjad-Sakati Syndrome
- Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation
- Dystonia in the Woodhouse Sakati syndrome: A new family and literature review
- Endocrine Abnormalities in a Case of Neurodegeneration with Brain Iron Accumulation
- Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature
- Endocrinological Manifestations of Sanjad-Sakati Syndrome
- 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
- Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome
- Expanding the phenotypic spectrum of Kenny-Caffey syndrome: a case series and systematic literature review
- First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient
- FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification?
- Genetic epidemiology of Woodhouse-Sakati Syndrome in the Greater Middle East region and beyond: a systematic review
- GENETICALLY DETERMINED DISEASES ASSOCIATED WITH PATHOLOGICAL BRAIN IRON ACCUMULATION AND NEURODEGENERATION
- GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome
- Hypoparathyroidism in children: a study of eight cases
- Hypoparathyroidism-retardation-dysmorphism syndrome
- Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency
- Hypoparathyroidism-retardation-dysmorphism syndrome-Clinical insights from a large longitudinal cohort in a single medical center
- Identification of Novel <em>CDH23</em> Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss
- Impact of intercurrent illness on calcium homeostasis in children with hypoparathyroidism: a case series
- Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report
- Kenny-Caffey syndrome type 1
- Kenny-Caffey syndrome type 1 in an Egyptian girl
- Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings
- Measurement of the Neutrophils Count and Oxidative Burst in Neutrophils of Patients with Sanjad Sakati Syndrome
- Movement Disorders Associated with Hypogonadism
- 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
- Neurological manifestations in children with Sanjad-Sakati syndrome
- New Ocular Associations in Sanjad-Sakati Syndrome: Case report from Oman
- Nine Hereditary Movement Disorders First Described in Asia: Their History and Evolution
- Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome
- Novel splicing-site mutation in DCAF17 gene causing Woodhouse-Sakati syndrome in a large consanguineous family
- Oral Facial Manifestations of Sanjad-Sakati Syndrome: A Literature Review
- Overlapping phenotype comprising Kenny-Caffey type 2 and Sanjad-Sakati syndromes: The first case report
- Partial agenesis of corpus callosum in Sanjad-Sakati syndrome (p-ACC)
- 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
- Preimplantation genetic diagnosis (PGD)--prevention of the birth of children affected with endocrine diseases
- Quantitative Susceptibility Mapping in Woodhouse-Sakati Syndrome
- Radiological Findings of Woodhouse-Sakati Syndrome: Cases Reported From Saudi Arabia
- Recombinant PTH Infusion in a Child With Sanjad-Sakati Syndrome Refractory to Conventional Therapy
- Sanjad Sakati syndrome and sleep-disordered breathing: an undisclosed association
- Sanjad Sakati syndrome: a case series from Jordan
- Sanjad-sakati syndrome and its association with superior mesenteric artery syndrome
- Sanjad-sakati syndrome dental management: a case report
- Sanjad-Sakati Syndrome in a 35-day-old Iraqi Infant: A Case Report
- Sanjad-Sakati syndrome in a neonate
- Sanjad-Sakati syndrome in a Tunisian child
- Sanjad-Sakati Syndrome in Omani children
- Sanjad-Sakati Syndrome in Sudanese children
- Sanjad-Sakati syndrome with macrocytic anemia and failure to thrive: a case from South Jordan
- Sanjad-Sakati Syndrome: Oral Health Care
- Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait
- Smith-Lemli-Opitz syndrome among Arabs
- Status epilepticus in a child with Sanjad Sakati syndrome
- The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin
- The otolaryngologic features of Sanjad-Sakati syndrome
- The Successful Management of Primary Amenorrhea in Woodhouse-Sakati Syndrome: A Case Report and a Literature Review
- The syndrome of deafness-dystonia: clinical and genetic heterogeneity
- 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: A Case Report of A New Saudi Family
- Visceral myopathy causing chronic intestinal pseudoobstruction and intestinal failure in a child with Sanjad-Sakati syndrome
- Whole exome sequencing and transcript analysis discover a novel pathogenic splice site mutation in DCAF17 gene underlying 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: A review
- Woodhouse-Sakati Syndrome: First report of a Portuguese case
- Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation
- Writer's Cramp Presentation of Woodhouse-Sakati Syndrome - "Out of the Woods"