(Q50974751)

English

Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations.

scientific article published on 12 June 2013

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/23692385

Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations. (English)

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/23692385

Bardet-Biedl syndrome

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

10

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/23692385

author name string

E Schaefer

1

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/23692385

J Lauer

2

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/23692385

M Durand

3

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/23692385

V Pelletier

4

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/23692385

C Obringer

5

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/23692385

A Claussmann

6

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/23692385

J-J Braun

7

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/23692385

C Redin

8

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/23692385

C Mathis

9

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/23692385

C Schmidt-Mutter

11

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/23692385

E Flori

12

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/23692385

V Marion

13

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/23692385

C Stoetzel

14

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/23692385

H Dollfus

15

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/23692385

publication date

12 June 2013

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/23692385

Clinical Genetics

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Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/23692385

85

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/23692385

5

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/23692385

476-481

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/23692385

Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12198

21 January 2018

Ciliary disorder of the skeleton

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12198

21 January 2018

Clinical and molecular analysis in Joubert syndrome.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12198

21 January 2018

What you can learn from one gene: GLI3

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12198

21 January 2018

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12198

21 January 2018

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12198

21 January 2018

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12198

21 January 2018

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12198

21 January 2018

A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12198

21 January 2018

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12198

21 January 2018

Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12198

21 January 2018

Molecular models for vertebrate limb development

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12198

21 January 2018

Ofd1 is required in limb bud patterning and endochondral bone development

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12198

21 January 2018

TCTN3 mutations cause Mohr-Majewski syndrome

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12198

21 January 2018

A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12198

21 January 2018

Oral–facial–digital syndromes: Review and diagnostic guidelines

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12198

21 January 2018

Identifiers

10.1111/CGE.12198

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/23692385

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

26 March 2018

http://europepmc.org/abstract/MED/23692385

ResearchGate publication ID

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