Trichorhinophalangeal Syndrome Type 2 Latest Advances

Bilateral Distal Clavicle Osteochondromas in Langer-Giedion Syndrome Leading to Subacromial Impingement: A Case Report.

Journal: JBJS case connector

Published: February 05, 2026

A Complex Case of Langer-Giedion Syndrome, Cornelia de Lange Syndrome Type 4, and Hereditary Multiple Osteochondromas with Mosaic 8q23.1-q24.12 Deletion.

Journal: Genes

Published: January 10, 2026

Phenotypic Spectrum in Three Romanian Patients with 8q23-q24 Deletions.

Journal: International journal of molecular sciences

Published: December 23, 2025

Longitudinal Syringomyelia, Cervical Dystonia, and Action Tremor in Trichorhinophalangeal Syndrome Type I - A Case Report.

Journal: Tremor and other hyperkinetic movements (New York, N.Y.)

Published: October 18, 2025

Maternal UPD(20) Leading to Mulchandani-Bhoj-Conlin Syndrome: A Rare Neonatal Case With Additional TRPS1 Deletion.

Journal: American journal of medical genetics. Part A

Published: July 27, 2025

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies.

Journal: Developmental dynamics : an official publication of the American Association of Anatomists

Published: February 12, 2025

Trichorhinophalangeal syndrome type 1 (TRPS1) in breast pathology: diagnostic utility and pitfalls.

Journal: Diagnostic pathology

Published: January 06, 2025

Radiculomegaly as a key clinical feature in oculo-facio-cardio-dental (OFCD) syndrome: a case report with a novel truncating variant in BCOR gene.

Journal: Cardiology in the young

Published: October 11, 2024

Tricho-rhino-phalangeal syndrome with TRPS1 gene variation in 3 children

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics

Published: September 27, 2024

Deletion of Trps1 regulatory elements recapitulates postnatal hip joint abnormalities and growth retardation of Trichorhinophalangeal syndrome in mice.

Journal: Human molecular genetics

Published: February 27, 2024

Trichorhinophalangeal Syndrome Orthopaedic Manifestations and Management: A Systematic Review.

Journal: Journal of the American Academy of Orthopaedic Surgeons. Global research & reviews

Published: January 05, 2024

Use of Multiple Machine Learning Approaches for Selecting Urothelial Cancer-Specific DNA Methylation Biomarkers in Urine.

Journal: International journal of molecular sciences

Published: October 13, 2023

Trichorhinophalangeal Syndrome Type 2 Latest Advances

Find the Latest Research About Trichorhinophalangeal Syndrome Type 2

Bilateral Distal Clavicle Osteochondromas in Langer-Giedion Syndrome Leading to Subacromial Impingement: A Case Report.

Bilateral Distal Clavicle Osteochondromas in Langer-Giedion Syndrome Leading to Subacromial Impingement: A Case Report.

A Complex Case of Langer-Giedion Syndrome, Cornelia de Lange Syndrome Type 4, and Hereditary Multiple Osteochondromas with Mosaic 8q23.1-q24.12 Deletion.

A Complex Case of Langer-Giedion Syndrome, Cornelia de Lange Syndrome Type 4, and Hereditary Multiple Osteochondromas with Mosaic 8q23.1-q24.12 Deletion.

Phenotypic Spectrum in Three Romanian Patients with 8q23-q24 Deletions.

Phenotypic Spectrum in Three Romanian Patients with 8q23-q24 Deletions.

Longitudinal Syringomyelia, Cervical Dystonia, and Action Tremor in Trichorhinophalangeal Syndrome Type I - A Case Report.

Longitudinal Syringomyelia, Cervical Dystonia, and Action Tremor in Trichorhinophalangeal Syndrome Type I - A Case Report.

Maternal UPD(20) Leading to Mulchandani-Bhoj-Conlin Syndrome: A Rare Neonatal Case With Additional TRPS1 Deletion.

Maternal UPD(20) Leading to Mulchandani-Bhoj-Conlin Syndrome: A Rare Neonatal Case With Additional TRPS1 Deletion.

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies.

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies.

Trichorhinophalangeal syndrome type 1 (TRPS1) in breast pathology: diagnostic utility and pitfalls.

Trichorhinophalangeal syndrome type 1 (TRPS1) in breast pathology: diagnostic utility and pitfalls.

Radiculomegaly as a key clinical feature in oculo-facio-cardio-dental (OFCD) syndrome: a case report with a novel truncating variant in BCOR gene.

Radiculomegaly as a key clinical feature in oculo-facio-cardio-dental (OFCD) syndrome: a case report with a novel truncating variant in BCOR gene.

Tricho-rhino-phalangeal syndrome with TRPS1 gene variation in 3 children

Tricho-rhino-phalangeal syndrome with TRPS1 gene variation in 3 children

Deletion of Trps1 regulatory elements recapitulates postnatal hip joint abnormalities and growth retardation of Trichorhinophalangeal syndrome in mice.

Deletion of Trps1 regulatory elements recapitulates postnatal hip joint abnormalities and growth retardation of Trichorhinophalangeal syndrome in mice.

Trichorhinophalangeal Syndrome Orthopaedic Manifestations and Management: A Systematic Review.

Trichorhinophalangeal Syndrome Orthopaedic Manifestations and Management: A Systematic Review.

Use of Multiple Machine Learning Approaches for Selecting Urothelial Cancer-Specific DNA Methylation Biomarkers in Urine.

Use of Multiple Machine Learning Approaches for Selecting Urothelial Cancer-Specific DNA Methylation Biomarkers in Urine.