CHST3-Related Skeletal Dysplasia Latest Advances

Find the Latest Research About CHST3-Related Skeletal Dysplasia

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Last Updated: 10/31/2025

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Found 13 publications

Subclinical hypothyroidism in children and adolescents as mild dysfunction of the thyroid gland: a single-center study.

Subclinical hypothyroidism in children and adolescents as mild dysfunction of the thyroid gland: a single-center study.

Journal: Pediatric endocrinology, diabetes, and metabolism
Published: September 20, 2023

Benzene ring bisphenol A substitutes potently inhibit human, rat, and mouse gonadal 3β-hydroxysteroid dehydrogenases: Structure-activity relationship and in silico docking analysis.

Benzene ring bisphenol A substitutes potently inhibit human, rat, and mouse gonadal 3β-hydroxysteroid dehydrogenases: Structure-activity relationship and in silico docking analysis.

Journal: Ecotoxicology and environmental safety
Published: March 30, 2023

Intrafamilial variability and neurological manifestations in two siblings with carbohydrate sulfotransferase 3-related skeletal dysplasia.

Intrafamilial variability and neurological manifestations in two siblings with carbohydrate sulfotransferase 3-related skeletal dysplasia.

Journal: Clinical dysmorphology
Published: December 12, 2022

CHST3-related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum.

CHST3-related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum.

Journal: American journal of medical genetics. Part A
Published: December 06, 2022

A Chinese case of CHST3-related skeletal dysplasia and a systematic review.

A Chinese case of CHST3-related skeletal dysplasia and a systematic review.

Journal: Endocrine
Published: October 13, 2022

Posterior Circulation Stroke due to Atlantoaxial Instability in CHST3-Related Skeletal Dysplasia: A Case Report.

Posterior Circulation Stroke due to Atlantoaxial Instability in CHST3-Related Skeletal Dysplasia: A Case Report.

Journal: JBJS case connector
Published: February 24, 2021

A novel nonsense mutation in CHST3 in a Turkish patient with spondyloepiphyseal dysplasia, Omani type.

A novel nonsense mutation in CHST3 in a Turkish patient with spondyloepiphyseal dysplasia, Omani type.

Journal: Clinical dysmorphology
Published: October 01, 2019

Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases.

Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases.

Journal: Clinical genetics
Published: August 17, 2016

Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families.

Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families.

Journal: American journal of medical genetics. Part A
Published: April 11, 2016

Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3.

Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3.

Journal: Clinical genetics
Published: March 27, 2009

Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype.

Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype.

Journal: American journal of medical genetics. Part A
Published: August 14, 2008

Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.

Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.

Journal: American journal of human genetics
Published: February 03, 2008
Showing 1-12 of 13

Last Updated: 10/31/2025

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