Heterogeneity of Chondrodysplasia punctata

scientific article published on 01 January 1971

Heterogeneity of Chondrodysplasia punctata is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1007/BF00274739
P953full work available at URLhttp://link.springer.com/article/10.1007/BF00274739/fulltext.html
http://link.springer.com/content/pdf/10.1007/BF00274739.pdf
http://link.springer.com/content/pdf/10.1007/BF00274739
P698PubMed publication ID5544780

P50authorJohn Marius OpitzQ99194
P2093author name stringJ. W. Spranger
U. Bidder
P2860cites workDysplasia epiphysialis punctata; report of a case and review of literature.Q35226569
Chondrodystrophia calcificans congenita. Report of a case and review of the literature.Q35328887
Chondroangiopathia calcarea seu punctata; review and case reportQ35662097
Mongoloid features with normal chromosomes--dysplasia epiphysialis punctataQ35860819
A CASE OF THE SMITH-LEMLI-OPITZ SYNDROME OF MULTIPLE CONGENITAL ANOMALIES IN ASSOCIATION WITH DYSPLASIA EPIPHYSIALIS PUNCTATAQ35905034
Congenital stippled epiphysesQ36006970
Two Cases, and Specimens from a Third Case, of Punctate Epiphyseal Dysplasia.Q36138733
Punctuate epiphyseal dysplasia.Q40229649
A Dwarf with Stippled EpiphysesQ42929011
Congenital Deformities with Stippled Epiphyses and Congenital Cataract.Q42931612
Epiphyseal chondrodysplasia (Hunnerman's disease)Q78695749
Punctate epiphyseal dysplasia, another cause of leg length inequalityQ79104866
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Chondroangiopathia calcarea seu punctataQ79360352
[Chondrodystrophia calcificans congenita.]Q79376137
Trisomy of chromosomes 13-15 and 17-18: its association with infantile arteriosclerosisQ79609097
Dysplasia epiphysialis punctataQ79631292
Dysplasia epiphysialis punctata; synonyms; stippled epiphyses, chondrodystrophia calcificans congenita (Hünermann)Q80298788
Follicular atrophoderma and pseudopelade associated with chondrodystrophia calcificans congenitaQ80617341
[Special forms of fetal chondrodysplasia (chondrodystrophy), in particular congenital calcifying chondrodysplasia.]Q80707272
Chondrodystrophia calcificans congenita; report of two casesQ83206832
Conradi's disease. Chondrodystrophia calcificans congenita, congenital stippled epiphysesQ43749888
The clinical picture of chondrodysplasia calcificans congenitaQ44858781
A CONTRIBUTION TO THE PROBLEM OF CONGENITAL CHONDRODYSTROPHIA CALCIFICANSQ46290123
CONTRIBUTION TO CONGENITAL CHONDRODYSTROPHIA CALCIFICANS (CONRADI-HUENERMANN SYNDROME)Q46290130
Chondrodystrophia calcificans congenita (dysplasia epiphysalis punctata). Recognition of the clinical pictureQ48937243
CHONDRODYSTROPHIA CALCIFICANS CONGENITA; CHONDRODYSPLASIA EPIPHYSIALIS PUNCTATA, STIPPLED EPIPHYSESQ50731426
[Epiphysial dysplasia; a proteiform entity.]Q52358891
Congenital calcific chondrodystrophy; a case report with consideration of etiology.Q52365424
[Chondrodysplasia punctata (Chondrodystrophia calcificans) II. The rhizomelic type]Q53849115
CHONDRANGIOPATHIA CALCAREA OR PUNCTATA.Q53855304
Dyspiasia epiphysialis punctata.Q54452053
Cerebro-hepato-renal Syndrome of ZellwegerQ54717391
Subglottic pseudotumor, laryngeal dysplasia, and chondrodysplasia calcificans congenita with a t(D;B) chromosomal translocationQ71098750
[Cataract in chondrodystrophia calcificans congenita (Conradi-Hünermann syndrome)]Q71245005
[The clinical and radiological development of congenital calcifying chondropathy]Q71881401
Chondro-Angiopathia Calcarea Seu PunctataQ72255716
Skin manifestations of Conradi's disease. Chondrodystrophia congenita punctataQ72811451
[Chondrodystrophia calcificans congenita]Q72995632
[Chondrodystrophia calcificans congenita; dysplasia epiphysialis punctata]Q73102286
Chondrodystrophia calcificans congenitaQ73157268
[Description of chondrodysplasia calcificans congenita and its relation to chondrodysplasia foetalis]Q73172343
[Congenital chrondrodystrophia calcificans]Q73300098
Calcareous chondropathies in the newborn infantQ73318889
[Congenital disease of stippled epiphyses or fetal chondrodystrophic epiphysial calcinosis]Q73388029
A hereditary factor in chondrodystrophia calcificans congenitaQ73409090
Punctate epiphyseal dysplasia (chondrodystrophia calcificans congenita); report of case with nine year period of observationQ73484167
Stippled epiphyses in a newborn infant without micromeliaQ73558234
[Chondrodystrophia calcificans congenita]Q73626786
Chondrodystrophia calcificans congenita; report of a caseQ73851923
Dysplasia epiphysialis punctataQ73899714
[A case of congenital chondrodystrophia punctata]Q73977990
A significant variant in the ossification centers of the vertebral bodiesQ74201747
Ocular involvement in chondrodystrophia calcificans congenita punctataQ74435631
Chondrodystrophia calcificans congenitaQ74463945
Dysplasia epiphysialis punctata; report of a case with discussionQ74528104
[Congenital calcifying chondrodysplasia]Q74586087
Chondrodystrophia calcificans congenita; case report with autopsy findingsQ75539635
Congenital stippled epiphysesQ75836219
Chondrodystrophia calcificans congenita; report of a caseQ75959756
Chondrodystrophia calcificans congenita (dysplasia epiphysialis punctata)Q75984370
Stippled epiphyses in the newborn and in infantsQ76141068
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"Q76959136
Chondrodystrophia calcificans congenitaQ78312397
[The problem of chondrodysplasia calcificans congenita.]Q78326891
AN ADDITIONAL CASE OF CHONDRODYSTROPHIA CALCIFICANS CONGENITA (CONRADI-HUENERMANN SYNDROME)Q78364785
CONTRIBUTION TO THE CLINICAL PICTURE OF CHONDRODYSTROPHIA CALCIFICANS CONGENITA (CONRADI-HUENERMANN)Q78509481
[Case of congenital disease of dotted epiphyses]Q78604668
[Extreme micromelia in chondrodysplasia calcificans congenita; with a contribution to its etiology.]Q78630035
[Calcareous or punctate chondroangiopathy; clinico-radiological study.]Q78669399
P433issue3
P407language of work or nameEnglishQ1860
P921main subjectgeneticsQ7162
heterogeneityQ928498
chondrodysplasia punctataQ1076060
P304page(s)190-212
P577publication date1971-01-01
P1433published inHumangenetikQ27711177
P1476titleHeterogeneity of Chondrodysplasia punctata
P478volume11

Reverse relations

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