Campomelia Cumming Type Latest Advances

A long-term survivor of campomelic dysplasia with 46,XY disorder of sex development and hypogonadotropic hypogonadism.

Journal: BMJ case reports

Published: December 23, 2025

Spatiotemporal Regulation and Lineage Specification in Embryonic Endochondral Ossification.

Journal: International journal of molecular sciences

Published: December 08, 2025

SOX9 gene anomalies and campomelic / acampomelic campomelic dysplasia: case report and literature review.

Journal: Frontiers in genetics

Published: November 26, 2025

Role of SoxE transcription factors in development and disease.

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

Published: October 14, 2025

Novel SOX9 Gene Variant Associated with Campomelic Dysplasia: Effects on Sex Phenotypes.

Journal: Journal of clinical research in pediatric endocrinology

Published: June 10, 2025

Campomelic Dysplasia With Sex Reversal, Gonadal Dysgenesis, and Bilateral Gonadoblastoma.

Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

Published: May 15, 2025

Upstream SOX9 deletion in a 46,XY girl with acampomelic campomelic dysplasia and absent minipuberty.

Journal: Orphanet journal of rare diseases

Published: April 07, 2025

Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: January 24, 2025

Long-Term Outcomes of Airway Management in 6 Children With Campomelic Dysplasia.

Journal: The Annals of otology, rhinology, and laryngology

Published: October 15, 2024

SOX9 haploinsufficiency reveals SOX9-Noggin interaction in BMP-SMAD signaling pathway in chondrogenesis.

Journal: Cellular and molecular life sciences : CMLS

Published: September 06, 2024

Missense variants weakening a SOX9 phosphodegron linked to odontogenesis defects, scoliosis, and other skeletal features.

Journal: HGG advances

Published: August 26, 2024

Risk and Resilience Variants in the Retinoic Acid Metabolic and Developmental Pathways Associated with Risk of FASD Outcomes.

Journal: Biomolecules

Published: April 04, 2024

Campomelia Cumming Type Latest Advances

Find the Latest Research About Campomelia Cumming Type

A long-term survivor of campomelic dysplasia with 46,XY disorder of sex development and hypogonadotropic hypogonadism.

A long-term survivor of campomelic dysplasia with 46,XY disorder of sex development and hypogonadotropic hypogonadism.

Spatiotemporal Regulation and Lineage Specification in Embryonic Endochondral Ossification.

Spatiotemporal Regulation and Lineage Specification in Embryonic Endochondral Ossification.

SOX9 gene anomalies and campomelic / acampomelic campomelic dysplasia: case report and literature review.

SOX9 gene anomalies and campomelic / acampomelic campomelic dysplasia: case report and literature review.

Role of SoxE transcription factors in development and disease.

Role of SoxE transcription factors in development and disease.

Novel SOX9 Gene Variant Associated with Campomelic Dysplasia: Effects on Sex Phenotypes.

Novel SOX9 Gene Variant Associated with Campomelic Dysplasia: Effects on Sex Phenotypes.

Campomelic Dysplasia With Sex Reversal, Gonadal Dysgenesis, and Bilateral Gonadoblastoma.

Campomelic Dysplasia With Sex Reversal, Gonadal Dysgenesis, and Bilateral Gonadoblastoma.

Upstream SOX9 deletion in a 46,XY girl with acampomelic campomelic dysplasia and absent minipuberty.

Upstream SOX9 deletion in a 46,XY girl with acampomelic campomelic dysplasia and absent minipuberty.

Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis.

Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis.

Long-Term Outcomes of Airway Management in 6 Children With Campomelic Dysplasia.

Long-Term Outcomes of Airway Management in 6 Children With Campomelic Dysplasia.

SOX9 haploinsufficiency reveals SOX9-Noggin interaction in BMP-SMAD signaling pathway in chondrogenesis.

SOX9 haploinsufficiency reveals SOX9-Noggin interaction in BMP-SMAD signaling pathway in chondrogenesis.

Missense variants weakening a SOX9 phosphodegron linked to odontogenesis defects, scoliosis, and other skeletal features.

Missense variants weakening a SOX9 phosphodegron linked to odontogenesis defects, scoliosis, and other skeletal features.

Risk and Resilience Variants in the Retinoic Acid Metabolic and Developmental Pathways Associated with Risk of FASD Outcomes.

Risk and Resilience Variants in the Retinoic Acid Metabolic and Developmental Pathways Associated with Risk of FASD Outcomes.