Craniodiaphyseal Dysplasia Latest Advances

Craniometaphyseal dysplasia leading to hydrocephalus and Chiari I malformation.

Journal: BMJ case reports

Published: July 10, 2025

Novel Loss of Function Variant in SOST From Chinese Family Results in Sclerosteosis 1.

Journal: Molecular genetics & genomic medicine

Published: November 28, 2024

Long-term follow-up of severe autosomal recessive SP7-related bone disorder.

Journal: Bone

Published: September 15, 2023

Sclerostin: clinical insights in muscle-bone crosstalk.

Journal: The Journal of international medical research

Published: August 26, 2023

A recessive form of craniodiaphyseal dysplasia caused by a homozygous missense variant in SP7/Osterix.

Journal: Bone

Published: August 05, 2022

BMP antagonists in tissue development and disease.

Journal: Matrix biology plus

Published: January 25, 2021

Craniodiaphyseal dysplasia: A Rare And Successful Bone-Anchored Hearing Aid Implantation.

Journal: International journal of pediatric otorhinolaryngology

Published: March 15, 2019

Sclerostin: Intracellular mechanisms of action and its role in the pathogenesis of skeletal and vascular disorders.

Journal: Advances in clinical and experimental medicine : official organ Wroclaw Medical University

Published: December 22, 2017

Activating the unfolded protein response in osteocytes causes hyperostosis consistent with craniodiaphyseal dysplasia.

Journal: Human molecular genetics

Published: May 22, 2017

Deep Brain Stimulation for Craniocervical Dystonia (Meige Syndrome): A Report of Four Patients and a Literature-Based Analysis of Its Treatment Effects.

Journal: Neuromodulation : journal of the International Neuromodulation Society

Published: March 17, 2015

Reversing LRP5-dependent osteoporosis and SOST deficiency-induced sclerosing bone disorders by altering WNT signaling activity.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Published: July 05, 2013

Fractures in connection with an atypical form of craniodiaphyseal dysplasia: case report of a boy and his mother.

Journal: Clinics (Sao Paulo, Brazil)

Published: January 09, 2013

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Craniometaphyseal dysplasia leading to hydrocephalus and Chiari I malformation.

Craniometaphyseal dysplasia leading to hydrocephalus and Chiari I malformation.

Novel Loss of Function Variant in SOST From Chinese Family Results in Sclerosteosis 1.

Novel Loss of Function Variant in SOST From Chinese Family Results in Sclerosteosis 1.

Long-term follow-up of severe autosomal recessive SP7-related bone disorder.

Long-term follow-up of severe autosomal recessive SP7-related bone disorder.

Sclerostin: clinical insights in muscle-bone crosstalk.

Sclerostin: clinical insights in muscle-bone crosstalk.

A recessive form of craniodiaphyseal dysplasia caused by a homozygous missense variant in SP7/Osterix.

A recessive form of craniodiaphyseal dysplasia caused by a homozygous missense variant in SP7/Osterix.

BMP antagonists in tissue development and disease.

BMP antagonists in tissue development and disease.

Craniodiaphyseal dysplasia: A Rare And Successful Bone-Anchored Hearing Aid Implantation.

Craniodiaphyseal dysplasia: A Rare And Successful Bone-Anchored Hearing Aid Implantation.

Sclerostin: Intracellular mechanisms of action and its role in the pathogenesis of skeletal and vascular disorders.

Sclerostin: Intracellular mechanisms of action and its role in the pathogenesis of skeletal and vascular disorders.

Activating the unfolded protein response in osteocytes causes hyperostosis consistent with craniodiaphyseal dysplasia.

Activating the unfolded protein response in osteocytes causes hyperostosis consistent with craniodiaphyseal dysplasia.

Deep Brain Stimulation for Craniocervical Dystonia (Meige Syndrome): A Report of Four Patients and a Literature-Based Analysis of Its Treatment Effects.

Deep Brain Stimulation for Craniocervical Dystonia (Meige Syndrome): A Report of Four Patients and a Literature-Based Analysis of Its Treatment Effects.

Reversing LRP5-dependent osteoporosis and SOST deficiency-induced sclerosing bone disorders by altering WNT signaling activity.

Reversing LRP5-dependent osteoporosis and SOST deficiency-induced sclerosing bone disorders by altering WNT signaling activity.

Fractures in connection with an atypical form of craniodiaphyseal dysplasia: case report of a boy and his mother.

Fractures in connection with an atypical form of craniodiaphyseal dysplasia: case report of a boy and his mother.