Craniometaphyseal Dysplasia Latest Advances

Find the Latest Research About Craniometaphyseal Dysplasia

Last Updated: 06/30/2026

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Found 170 publications

Craniometaphyseal dysplasia: a rare cause of persistent macrocephaly.

Craniometaphyseal dysplasia: a rare cause of persistent macrocephaly.

Journal: BMJ case reports
Published: June 16, 2026

Craniometaphyseal dysplasia with severe maxillary hypoplasia due to ANKH gene mutation: A case report.

Craniometaphyseal dysplasia with severe maxillary hypoplasia due to ANKH gene mutation: A case report.

Journal: Journal of genetics
Published: May 05, 2026

Disturbed ATP and AMPK homeostasis in an Ank F377del mouse model for craniometaphyseal dysplasia.

Disturbed ATP and AMPK homeostasis in an Ank F377del mouse model for craniometaphyseal dysplasia.

Journal: bioRxiv : the preprint server for biology
Published: April 27, 2026

Craniosynostosis in craniometaphyseal dysplasia: an expansion of phenotype.

Craniosynostosis in craniometaphyseal dysplasia: an expansion of phenotype.

Journal: Clinical dysmorphology
Published: March 26, 2026

Craniometaphyseal dysplasia leading to hydrocephalus and Chiari I malformation.

Craniometaphyseal dysplasia leading to hydrocephalus and Chiari I malformation.

Journal: BMJ case reports
Published: July 10, 2025

Recurrent c.-11C>T change located upstream of the normal ATG initiation codon of ANKH causes self-limited familial infantile epilepsy.

Recurrent c.-11C>T change located upstream of the normal ATG initiation codon of ANKH causes self-limited familial infantile epilepsy.

Journal: Epilepsia
Published: March 14, 2025

Craniometaphyseal dysplasia: The importance of genetic diagnosis based on delayed eruption of permanent teeth.

Craniometaphyseal dysplasia: The importance of genetic diagnosis based on delayed eruption of permanent teeth.

Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: February 19, 2025

Highlighting the importance of X-ray diagnostics for targeted molecular genetic analysis in the diagnosis of rare autosomal dominant craniometaphyseal dysplasia.

Highlighting the importance of X-ray diagnostics for targeted molecular genetic analysis in the diagnosis of rare autosomal dominant craniometaphyseal dysplasia.

Journal: BMJ case reports
Published: February 06, 2025

Insights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic Disorders.

Insights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic Disorders.

Journal: Calcified tissue international
Published: February 05, 2025

Evolution and Spatiotemporal Expression of ankha and ankhb in Zebrafish.

Evolution and Spatiotemporal Expression of ankha and ankhb in Zebrafish.

Journal: Journal of developmental biology
Published: June 03, 2024

ENPP1 enzyme replacement therapy improves ectopic calcification but does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia.

ENPP1 enzyme replacement therapy improves ectopic calcification but does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia.

Journal: JBMR plus
Published: May 10, 2024

Combined Fronto-orbital Contouring and Orthognathic Surgery in Craniometaphyseal Dysplasia.

Combined Fronto-orbital Contouring and Orthognathic Surgery in Craniometaphyseal Dysplasia.

Journal: Plastic and reconstructive surgery. Global open
Published: May 02, 2024
Showing 1-12 of 170

Last Updated: 06/30/2026