(Q34926858)

5 August 2017

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title

Polydactyly: how many disorders and how many genes? (English)

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5 August 2017

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1

Leslie G Biesecker

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5 August 2017

publication date

1 October 2002

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American Journal of Medical Genetics Part A

5 August 2017

published in

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5 August 2017

volume

112

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5 August 2017

issue

3

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5 August 2017

page(s)

279-283

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GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome

5 August 2017

cites work

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https://api.crossref.org/works/10.1002%2FAJMG.10779

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10779

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10779

Mutation in GLI3 in postaxial polydactyly type A

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10779

The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10779

Considerations for a multiaxis nomenclature system for medical genetics.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10779

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10779

The molecular genetics of Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10779

Mutations in MKKS cause Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10779

Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10779

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10779

Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10779

21 January 2018

Identifiers

DOI

10.1002/AJMG.10779

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5 August 2017

1 reference