Associated Papers
Out-of-frame Translation Rescues a Loss-of-function Variant in a Novel TBCE Phenotype.
Sparber P et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Expanding TBCE-related phenotype-novel variant causing rigid spine, eosinophilia, neutropenia, and nocturnal hypoxemia.
Badura-Stronka M et al.
Journal of Applied Genetics, 2025
Additional Tunisian patients with Sanjad-Sakati syndrome: A review toward a consensus on diagnostic criteria.
Touati A et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2019
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.
Sferra A et al.
American Journal of Human Genetics, 2016
Sanjad-Sakati syndrome in a Tunisian child.
Kerkeni E et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2015
[Marshall syndrome: Clinical, radiological and genetical features of a Tunisian family].
Sakka R et al.
La Tunisie Medicale, 2015
Mutation in the TBCE gene is associated with hypoparathyroidism-retardation-dysmorphism syndrome featuring pituitary hormone deficiencies and hypoplasia of the anterior pituitary and the corpus callosum.
Padidela R et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Hypoparathyroidism-retardation-Dysmorphism (HRD) syndrome--a review.
Hershkovitz E et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2004
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.
Parvari R et al.
Nature Genetics, 2002
Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait.
Naguib KK et al.
Eastern Mediterranean Health Journal = La Revue De Sante De La Mediterranee Orientale = Al-majallah Al-sihhiyah Li-sharq Al-mutawassit, 0