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Article

Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation.

American journal of medical genetics. Part A - 1 Jun 2009

Baynam Gareth, Goldblatt Jack, Schofield Lyn

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Source

Identifiers

PMID: 19449425
DOI: 10.1002/ajmg.a.32875

Genes

ANKH

Provenance

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation.PMID 19449425Read ↗

Maternal mosaicism of an ANKH mutation in a family with craniometaphyseal dysplasia.Semantic proximity Read ↗

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

Further evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotype.Semantic proximity Read ↗

Introduction of a Phe377del Mutation in ANK Creates a Mouse Model for Craniometaphyseal DysplasiaSemantic proximity Read ↗

Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia.Semantic proximity Read ↗

Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family.Semantic proximity Read ↗

Bone Mineralization Regulation: Using Zebrafish as a Model to Study ANKH-associated Mineralization DisordersSemantic proximity Read ↗

Genetics of chondrocalcinosis.Semantic proximity Read ↗

A new acro-osteolysis syndrome caused by duplications including PTHLH.Semantic proximity Read ↗

Investigation of the role of ANKH in ankylosing spondylitis.Semantic proximity Read ↗

Craniometaphyseal Dysplasia Mutations in ANKH Negatively Affect Human Induced Pluripotent Stem Cell Differentiation into Osteoclasts.Semantic proximity Read ↗

A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the geneSemantic proximity Read ↗

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