• 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
• 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
• 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
• Homozygous TBCE Gene Mutation c.155-166del in a Libyan Patient with Sanjad-Sakati Syndrome: Same Gene Mutation Responsible in All Arab Ethnic Patients
• 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
• 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 in an Indian family
• 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
• 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"