(Q33596470)

28 July 2017

Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis (English)

1 reference

autosomal recessive spondylocostal dysostosis

28 July 2017

0 references

author name string

Turnpenny PD

series ordinal

1

1 reference

28 July 2017

Thwaites RJ

series ordinal

2

1 reference

28 July 2017

Boulos FN

series ordinal

3

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 January 1991

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

28

1 reference

28 July 2017

27-33

1 reference

28 July 2017

1

1 reference

Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016743

Spondylocostal dysostosis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016743

A syndrome of bizarre vertebral anomalies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016743

Spondylocostal dysplasia. A dominantly inherited form of short-trunked dwarfism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016743

Spondylothoracic Dysplasia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016743

Bizarre Deformities in Offspring of User of Lysergic Acid Diethylamide

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016743

Evidence for autosomal recessive inheritance of costovertebral dysplasia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016743

The autosomal recessive form of spondylocostal dysostosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016743

Spondylo-thoracic Dysplasia in Three Sisters

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016743

Occipito-facial-cervico-thoracic-abdomino-digital dysplasia; Jarcho-Levin syndrome of vertebral anomalies. Report of six cases and review of the literature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016743

Congenital spinal deformity in a three generation family

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016743

Spondylocostal dysostosis: an example of autosomal dominant transmission in a large family.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016743

Cerebro-Facio-Thoracic Dysplasia: Report of Three Cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016743

Spondylocostal dysostosis and urinary tract anomaly: definition and review of an entity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016743

Recessively inherited costovertebral segmentation defect with mesomelia and peculiar facies (Covesdem syndrome): A new genetic entity?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016743

Spondylothoracic dysplasia in two siblings. A short neck and trunk due to vertebral body abnormalities along with abnormal ribs should suggest this rare syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016743

Recessive spondylocostal dysostosis: Two new cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016743

Spondylocostal dysostosis in South African sisters.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016743

Plagiocephaly and torticollis: etiology, natural history, and helmet treatment.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016743

30 October 2018

Costovertebral dysplasia

1 reference

12 December 2020

Principles governing the genesis of congenital malformations induced in mice by hypoxia

1 reference

12 December 2020

A new lethal chondrodysplasia with spondylocostal dysostosis, multiple internal anomalies and Dandy-Walker cyst

1 reference

12 December 2020

[Polydysspondylic syndrome due to 14-15 translocation and dyschondrosteosis in the same subject. Familial segregation.]

1 reference

12 December 2020

Spondylothoracic and spondylocostal dysostosis. Hereditary forms of spinal deformity

1 reference

12 December 2020

Spondylocostal/spondylothoracic dysostosis: the clinical basis for prognosticating and genetic counseling

1 reference

12 December 2020

[Chromosome aberrations & human diseases; multiple spinal abnormalities with 45 chromosomes.]

1 reference

12 December 2020

Second trimester prenatal diagnosis of the Jarcho-Levin syndrome

1 reference

12 December 2020

Prenatal findings in a case of spondylocostal dysplasia type I (Jarcho-Levin syndrome)

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.28.1.27

1 reference

28 July 2017

1 reference

28 July 2017

1 reference