(Q33592712)

28 July 2017

title

Congenital generalised bone dysplasias: a clinical, radiological, and epidemiological survey (English)

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28 July 2017

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Andersen PE Jr

1

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28 July 2017

Hauge M

series ordinal

2

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28 July 2017

language of work or name

English

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publication date

1 January 1989

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

26

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28 July 2017

issue

1

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28 July 2017

page(s)

37-44

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Achondrogenesis: new nosology with evidence of genetic heterogeneity

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015534

Osteopetrosis. A clinical, genetic, metabolic, and morphologic study of the dominantly inherited, benign form

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015534

Cloverleaf skull with generalised bone dysplasia. Report of a case with short review of the literature

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015534

The birth prevalence rates for the skeletal dysplasias

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015534

Heterogeneity of autosomal dominant osteopetrosis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015534

The prevalence of skeletal dysplasias. An estimate of their minimum frequency and the number of patients requiring orthopaedic care.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015534

Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015534

Genetic heterogeneity in osteogenesis imperfecta

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015534

Chondrodysplasia punctata. Report of two cases

14 July 2018

1 reference

12 December 2020

Achondrogenesis type II in twins

1 reference

12 December 2020

Osteogenesis imperfecta: an expanding panorama of variants

1 reference

12 December 2020

Bilateral failure of the capital femoral epiphysis: bilateral Perthes disease, multiple epiphyseal dysplasia, pseudoachondroplasia, and spondyloepiphyseal dysplasia congenita and tarda

1 reference

12 December 2020

Bone dysplasias: not so rare, definitely important

1 reference

12 December 2020

Identifiers

PMC publication ID

1015534

1 reference

28 July 2017

1 reference