Craniometaphyseal dysplasia (CMD), autosomal dominant form (Q33676589)

28 July 2017

Craniometaphyseal dysplasia (CMD), autosomal dominant form (English)

1 reference

craniometaphyseal dysplasia

28 July 2017

1 reference

Beighton P

1

1 reference

PubMed ID

7616544

28 July 2017

language of work or name

English

0 references

publication date

1 May 1995

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

32

1 reference

28 July 2017

5

1 reference

28 July 2017

370-374

1 reference

Metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia, and related conditions. I. Familial metaphyseal dysplasia and craniometaphyseal dysplasia; their relation to leontiasis ossea and osteopetrosis; disorders of bone remodeling.

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050432

Bone marrow-derived osteoclast-like cells from a patient with craniometaphyseal dysplasia lack expression of osteoclast-reactive vacuolar proton pump

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050432

Dominant craniometaphyseal dysplasia. Literature review and case report

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050432

Craniofacial surgery in craniometaphyseal dysplasia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050432

Familial metaphyseal dysplasia. Review of the clinical and radiologic feature of Pyle's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050432

Cranial Metaphyseal Dysplasia: Otolaryngologic Aspects

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050432

Cervical spinal deformity in craniometaphyseal dysplasia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050432

A case of autosomal recessive form of cranio-metaphyseal dysplasia with unusual features and with bone fragility.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050432

Craniometaphyseal dysplasia associated with hydrocephalus: case report.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050432

Craniometaphyseal dysplasia with increased bone turnover and secondary hyperparathyroidism: therapeutic effect of calcitonin.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050432

Treatment of craniometaphyseal dysplasia with calcitriol.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050432

A new look at craniometaphyseal dysplasia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050432

Radiographic features of craniometadiaphyseal dysplasia, wormian bone type.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050432

Radiology of the autosomal dominant form of craniometaphyseal dysplasia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050432

Autosomal recessive inheritance of metaphyseal dysplasia (Pyle disease)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050432

The radiological manifestations of metaphyseal dysplasia (Pyle disease)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050432

Craniometaphyseal dysplasia -variability of expression within a large family

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050432

A review of the osteopetroses

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050432

Autosomal recessive craniometaphyseal dysplasia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050432

Autosomal dominant craniometaphyseal dysplasia. Clinical variability.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050432

Familial craniometaphyseal dysplasia associated with mental retardation

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050432

Familial osteodystrophy of the skull and face

30 October 2018

1 reference

12 December 2020

Dominant craniometaphyseal dysplasia--a family study over five generations

1 reference

12 December 2020

Cranial manifestations of familial metaphyseal dysplasia

1 reference

12 December 2020

[Osseous leontiasis in the child; probable partial osteopetrosis]

1 reference

12 December 2020

Familial metaphyseal dysplasia, Pyle's disease

1 reference

12 December 2020

CRANIOMETAPHYSIAL DYSPLASIA (PYLE)

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.32.5.370

1 reference

release_kgjvpuhdjbggjj6ezgih4kpkeq

28 July 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/kgjvpuhdjbggjj6ezgih4kpkeq

24 November 2022

mapped directly with Wikidata item

PMCID

1050432

1 reference

28 July 2017

1 reference

PubMed ID

7616544