Craniometaphyseal Dysplasia Latest Advances

Journal: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology

Published: November 08, 2023

Filters

Craniometaphyseal dysplasia leading to hydrocephalus and Chiari I malformation.

Craniometaphyseal dysplasia leading to hydrocephalus and Chiari I malformation.

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.

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.

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.

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.

Evolution and Spatiotemporal Expression of ankha and ankhb in Zebrafish.

Evolution and Spatiotemporal Expression of ankha and ankhb in Zebrafish.

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.

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

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

Skeletal abnormalities caused by a Connexin43R239Q mutation in a mouse model for autosomal recessive craniometaphyseal dysplasia.

Skeletal abnormalities caused by a Connexin43R239Q mutation in a mouse model for autosomal recessive craniometaphyseal dysplasia.

Skeletal abnormalities caused by a Connexin43R239Q mutation in a mouse model for autosomal recessive craniometaphyseal dysplasia.

Skeletal abnormalities caused by a Connexin43R239Q mutation in a mouse model for autosomal recessive craniometaphyseal dysplasia.

Allogeneic bone marrow transplantation in craniometaphyseal dysplasia.

Allogeneic bone marrow transplantation in craniometaphyseal dysplasia.

Transmastoid Facial Nerve Decompression for Craniometaphyseal Dysplasia.

Transmastoid Facial Nerve Decompression for Craniometaphyseal Dysplasia.