(Q41937081)

14 October 2017

Chondrodysplasia punctata--rhizomelic form. Pathologic and radiologic studies of three infants (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A987909

12 August 2022

2

J M Opitz

1 reference

14 October 2017

E. F. Gilbert

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A987909

12 August 2022

J. W. Spranger

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A987909

12 August 2022

L. O. Langer

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A987909

12 August 2022

J. J. Wolfson

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A987909

12 August 2022

C. Viseskul

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A987909

12 August 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=987909

12 August 2022

publication date

1 September 1976

1 reference

European Journal of Pediatrics

14 October 2017

1 reference

14 October 2017

123

1 reference

14 October 2017

89-109

1 reference

14 October 2017

2

1 reference

https://scigraph.springernature.com/pub.10.1007/bf00442639

14 October 2017

0 references

cites work

Heterogeneity of Chondrodysplasia punctata

1 reference

12 December 2020

Chondrodystrophia calcificans congenita. Report of a case and review of the literature.

1 reference

12 December 2020

Cerebro-hepato-renal Syndrome of Zellweger

1 reference

12 December 2020

FAMILIAL NEUROVISCERAL LIPIDOSIS. AN ANALYSIS OF EIGHT CASES OF A SYNDROME PREVIOUSLY REPORTED AS "HURLER-VARIANT," "PSEUDO-HURLER," AND "TAY-SACHS DISEASE WITH VISCERAL INVOLVEMENT"

1 reference

12 December 2020

Chondrodysplasis punctata: is maternal warfarin therapy a factor?

1 reference

12 December 2020

A CASE OF THE SMITH-LEMLI-OPITZ SYNDROME OF MULTIPLE CONGENITAL ANOMALIES IN ASSOCIATION WITH DYSPLASIA EPIPHYSIALIS PUNCTATA

1 reference

12 December 2020

Congenital Deformities with Stippled Epiphyses and Congenital Cataract.

1 reference

12 December 2020

Congenital stippled epiphyses

1 reference

12 December 2020

Dysplasia epiphysialis punctata; synonyms; stippled epiphyses, chondrodystrophia calcificans congenita (Hünermann)

1 reference

12 December 2020

Trisomy of chromosomes 13-15 and 17-18: its association with infantile arteriosclerosis

1 reference

12 December 2020

A significant variant in the ossification centers of the vertebral bodies

1 reference

12 December 2020

Chondrodysplasia punctata and maternal warfarin use during pregnancy

1 reference

12 December 2020

Dysplasia epiphysialis punctata

1 reference

12 December 2020

Epiphyseal chondrodysplasia (Hunnerman's disease)

1 reference

12 December 2020

Congenital stippled epiphyses

1 reference

12 December 2020

Chondrodysplasia punctata (rhizomelic type): case report and pathologic findings

1 reference

12 December 2020

Subglottic pseudotumor, laryngeal dysplasia, and chondrodysplasia calcificans congenita with a t(D;B) chromosomal translocation

1 reference

12 December 2020

A hereditary factor in chondrodystrophia calcificans congenita

1 reference

12 December 2020

[Description of chondrodysplasia calcificans congenita and its relation to chondrodysplasia foetalis]

1 reference

12 December 2020

Pathology of chondrodysplasia punctata rhizomelic type

1 reference

12 December 2020

[Case of congenital disease of dotted epiphyses]

1 reference

12 December 2020

Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral anomalies

1 reference

12 December 2020

Calcareous chondropathies in the newborn infant

1 reference

12 December 2020

Ocular involvement in chondrodystrophia calcificans congenita punctata

1 reference

12 December 2020

Chondrodystrophia calcificans congenita; case report with autopsy findings

1 reference

12 December 2020

[Chondrodysplasia punctata (Chondrodystrophia calcificans) II. The rhizomelic type]

1 reference

12 December 2020

Chondrodystrophia calcificans congenita

1 reference

12 December 2020

[Epiphysial dysplasia; a proteiform entity.]

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00442639

1 reference

14 October 2017

1 reference