(Q52164099)

25 April 2018

title

Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease. (English)

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25 April 2018

author name string

Spranger J

1

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25 April 2018

Hall BD

2

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25 April 2018

Häne B

3

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25 April 2018

Srivastava A

4

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25 April 2018

Stevenson RE

5

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25 April 2018

publication date

1 October 2000

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25 April 2018

American Journal of Medical Genetics Part A

published in

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25 April 2018

volume

94

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25 April 2018

issue

4

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25 April 2018

page(s)

287-295

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25 April 2018

Dyssegmental dysplasias: clinical, radiographic, and morphologic evidence of heterogeneity

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Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1.

21 January 2018

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A new skeletal dysplasia: clinical, radiologic, and pathologic findings.

21 January 2018

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Kyphomelic dysplasia in two sib fetuses

21 January 2018

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Association of kyphomelic dysplasia with severe combined immunodeficiency

21 January 2018

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Familial Congenital Bowing with Short Bones

21 January 2018

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Heterogeneity in the campomelic syndromes. Long-and short-bone varieties

21 January 2018

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Campomelic syndrome: concepts of the bowing and shortening in the lower limbs.

21 January 2018

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Brief clinical report: skeletal dysplasia with short, angulated femora (kyphomelic dysplasia).

21 January 2018

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Asymmetric and symmetric long bone bowing in two sibs: an apparently new bone dysplasia.

21 January 2018

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Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34-p36.1 by homozygosity mapping.

21 January 2018

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Congenital bowing of long bones: clinical and experimental study.

21 January 2018

1 reference

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21 January 2018

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Schwartz-Jampel syndrome in two daughters of first cousins

21 January 2018

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Congenital blepharophimosis associated with a unique generalized myopathy

21 January 2018

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Kyphomelic dysplasia: the first 10 cases

21 January 2018

1 reference

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Schwartz-Jampel syndrome (chondrodystrophic myotonia)

21 January 2018

1 reference

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Presentation of six cases of Stüve-Wiedemann syndrome

21 January 2018

1 reference

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Long-limbed campomelic dwarfism. A radiologic and pathologic study

21 January 2018

1 reference

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Schwartz-Jampel syndrome: an atypical form?

21 January 2018

1 reference

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Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval

21 January 2018

1 reference

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Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia

21 January 2018

1 reference

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A severe infantile micromelic chondrodysplasia which resembles Kniest disease

21 January 2018

1 reference

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Burton skeletal dysplasia: the second case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C287%3A%3AAID-AJMG5%3E3.0.CO%3B2-G

Schwartz-Jampel syndrome: I. Clinical, electromyographic, and histologic studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C287%3A%3AAID-AJMG5%3E3.0.CO%3B2-G

Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping"

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C287%3A%3AAID-AJMG5%3E3.0.CO%3B2-G

10.1002/1096-8628(20001002)94:4<287::AID-AJMG5>3.0.CO;2-G

21 January 2018

Identifiers

DOI

1 reference

25 April 2018

PubMed ID

11038441

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25 April 2018