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Last Updated: 10/31/2025

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Found 61 publications

Skeletal dysplasia-causing mutations in TRPV4 alter the chondrocyte transcriptomic response to mechanical loading.

Skeletal dysplasia-causing mutations in TRPV4 alter the chondrocyte transcriptomic response to mechanical loading.

Journal: American journal of physiology. Cell physiology
Published: February 28, 2025

PAPSS2-Related Brachyolmia: Clinical and Radiographic Features and Growth Hormone Therapy of One Chinese Case.

PAPSS2-Related Brachyolmia: Clinical and Radiographic Features and Growth Hormone Therapy of One Chinese Case.

Journal: Clinical case reports
Published: October 14, 2024

Comparison of the natural course of clinical and radiologic features in 13 patients with TRPV4-related skeletal dysplasias.

Comparison of the natural course of clinical and radiologic features in 13 patients with TRPV4-related skeletal dysplasias.

Journal: Pediatric radiology
Published: August 01, 2024

Truncating variants in PAPSS2 gene: A cause of early prenatal onset brachyolmia?

Truncating variants in PAPSS2 gene: A cause of early prenatal onset brachyolmia?

Journal: Prenatal diagnosis
Published: January 13, 2024

Bone Phenotype is Always Present But Androgen Excess is Less Frequently Seen in PAPSS2 Deficiency

Bone Phenotype is Always Present But Androgen Excess is Less Frequently Seen in PAPSS2 Deficiency

Journal: Journal of clinical research in pediatric endocrinology
Published: December 12, 2023

IDENTIFICATION OF A NOVEL LTBP3 GENE PATHOGENIC VARIANT IN DRUZE ARAB PATIENTS PRESENTED WITH SYNDROMIC SHORT STATURE WITH BRACHYOLMIA AND AMELOGENESIS IMPERFECTA

IDENTIFICATION OF A NOVEL LTBP3 GENE PATHOGENIC VARIANT IN DRUZE ARAB PATIENTS PRESENTED WITH SYNDROMIC SHORT STATURE WITH BRACHYOLMIA AND AMELOGENESIS IMPERFECTA

Journal: Harefuah
Published: July 02, 2023

Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients.

Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients.

Journal: Heliyon
Published: April 14, 2023

A Missense Mutation (c.1037 G > C, p. R346P) in PAPSS2 Gene Results in Autosomal Recessive form of Brachyolmia Type 1 (Hobaek Form) in A Consanguineous Family.

A Missense Mutation (c.1037 G > C, p. R346P) in PAPSS2 Gene Results in Autosomal Recessive form of Brachyolmia Type 1 (Hobaek Form) in A Consanguineous Family.

Journal: Genes
Published: October 11, 2022

First characterization of LTBP3 variants in two Moroccan families with hypoplastic amelogenesis imperfecta.

First characterization of LTBP3 variants in two Moroccan families with hypoplastic amelogenesis imperfecta.

Journal: Archives of oral biology
Published: April 25, 2022

Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome.

Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome.

Journal: Clinical genetics
Published: February 26, 2022

Novel Inactivating Homozygous PAPSS2 Mutation in Two Siblings With Disproportionate Short Stature.

Novel Inactivating Homozygous PAPSS2 Mutation in Two Siblings With Disproportionate Short Stature.

Journal: AACE clinical case reports
Published: August 23, 2021

A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3.

A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3.

Journal: Genes
Published: August 09, 2021
Showing 1-12 of 61

Last Updated: 10/31/2025