(Q28289481)

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MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia

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Europe PubMed Central

title

MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia (English)

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main subject

multiple epiphyseal dysplasia

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4

David L Rimoin

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Ralph S. Lachman

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1

object named as

Ralph S Lachman

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author name string

Deborah Krakow

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2

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Daniel H Cohn

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3

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language of work or name

English

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publication date

February 2005

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published in

Pediatric Radiology

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volume

35

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issue

2

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page(s)

116-23

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exact match

https://scigraph.springernature.com/pub.10.1007/s00247-004-1323-4

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cites work

Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503005

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Arthrography of the hip. A clue to the pathogenesis of the epiphyseal dysplasias.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503005

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503005

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503005

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503005

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503005

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503005

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diastrophic dysplasia: the death of a variant.

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503005

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15503005

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/S00247-004-1323-4

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Dimensions Publication ID

1005887238

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PubMed ID

15503005

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(Q28289481)

MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia

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