Filters
Term Search
You can select from the dropdown list OR enter your own terms to refine the search.
Last Updated: 10/31/2025
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 30 publications
Out-of-frame Translation Rescues a Loss-of-function Variant in a Novel TBCE Phenotype.
Journal: The Journal of clinical endocrinology and metabolism
Published: September 19, 2024
Hydrocephalus in Sanajd Sakati syndrome: a first clinical report.
Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
Published: August 07, 2024
Measurement of the Neutrophils Count and Oxidative Burst in Neutrophils of Patients with Sanjad Sakati Syndrome.
Journal: Iranian journal of allergy, asthma, and immunology
Published: November 18, 2022
Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency.
Journal: Journal of clinical immunology
Published: June 27, 2022
Homozygous TBCE Gene Mutation c.155-166del in a Libyan Patient with Sanjad-Sakati Syndrome: Same Gene Mutation Responsible in All Arab Ethnic Patients.
Journal: Journal of pediatric genetics
Published: November 17, 2021
Corneal opacification in Sanjad-Sakati syndrome.
Journal: American journal of ophthalmology case reports
Published: August 16, 2021
Sanjad Sakati syndrome and sleep-disordered breathing: an undisclosed association.
Journal: Sleep & breathing = Schlaf & Atmung
Published: March 18, 2021
Multiple Endocrine Deficiencies are Common in Hypoparathyroidism-Retardation-Dysmorphism Syndrome.
Journal: The Journal of clinical endocrinology and metabolism
Published: July 03, 2020
Congenital neuroblastoma in a neonate with hypoparathyroidism-retardation-dysmorphism syndrome.
Journal: Clinical dysmorphology
Published: June 18, 2019
Hypoparathyroidism in children: a study of eight cases.
Journal: La Tunisie medicale
Published: November 16, 2018
Additional Tunisian patients with Sanjad-Sakati syndrome: A review toward a consensus on diagnostic criteria.
Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
Published: July 22, 2018
Last Updated: 10/31/2025