(Q33673725)

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Pseudoachondroplasia: clinical diagnosis at different ages and comparison of autosomal dominant and recessive types. A review of 32 patients (26 kindreds).

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Pseudoachondroplasia: clinical diagnosis at different ages and comparison of autosomal dominant and recessive types. A review of 32 patients (26 kindreds). (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

author name string

Wynne-Davies R

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Hall CM

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Young ID

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

language of work or name

0 references

publication date

1 October 1986

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

23

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

425-434

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Type III psuedoachondroplastic dysplasia (dominant inheritance).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049780

21 June 2018

Severe pseudoachondroplasia with parental consanguinity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049780

21 June 2018

The severe recessive form of pseudoachondroplastic dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049780

21 June 2018

Pseudoachondroplasia, a report of 13 cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049780

21 June 2018

A dominant form of pseudoachondroplastic dysplasia. A familial case (author's transl)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049780

21 June 2018

Variable expressivity in the skeletal dysplasias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049780

21 June 2018

Growth curves for height for diastrophic dysplasia, spondyloepiphyseal dysplasia congenita, and pseudoachondroplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049780

30 October 2018

Difficulties in the classification of the epiphyseal dysplasias

1 reference

https://pubmed.ncbi.nlm.nih.gov/3783619

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pseudoachondroplastic dysplasia (Maroteaux-Lamy): a critical analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/3783619

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mild form of pseudoachondroplasia. Identity of the morphological and biochemical alterations of growth cartilage with those of typical pseudoachondroplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/3783619

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The biochemical defect of pseudoachondroplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/3783619

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Different morphologic findings and genetic heterogeneity in pseudoachondroplasia: light- and electron-microscopic observations in iliac crest bioptic material

1 reference

https://pubmed.ncbi.nlm.nih.gov/3783619

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/3783619

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Type II pseudoachondroplasia. Presentation of a family]

1 reference

https://pubmed.ncbi.nlm.nih.gov/3783619

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Pseudo-achondroplastic forms of spondylo-epiphyseal dysplasias.]

1 reference

https://pubmed.ncbi.nlm.nih.gov/3783619

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spondylo-epiphyseal dysplasia (pseudo-achondroplastic type)

1 reference

https://pubmed.ncbi.nlm.nih.gov/3783619

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

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