Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome Latest Advances

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

Endocrinological Manifestations of Sanjad-Sakati Syndrome.

Journal: Cureus

Published: July 28, 2020

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