Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP-Reference-Cited by-同舟云学术

Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP

Published:2020-09-16 Issue:11 Volume:41 Page:1906-1917
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

MacKenzie Katherine C.¹^ORCID,Graaf Bianca M.¹,Syrimis Andreas²,Zhao Yuying¹,Brosens Erwin¹^ORCID,Mancini Grazia M. S.¹,Schot Rachel¹,Halley Dicky¹,Wilke Martina¹,Vøllo Arve³,Flinter Frances⁴,Green Andrew⁵,Mansour Sahar⁶,Pilch Jacek⁷,Stark Zornitza⁸⁹^ORCID,Zamba‐Papanicolaou Eleni¹⁰,Christophidou‐Anastasiadou Violetta²,Hofstra Robert M. W.¹,Jongbloed Jan D. H.¹¹,Nicolaou Nayia²,Tanteles George A.²,Brooks Alice S.¹,Alves Maria M.¹^ORCID

Affiliation:

1. Department of Clinical Genetics Erasmus University Medical Centre Rotterdam The Netherlands

2. Department of Clinical Genetics The Cyprus Institute of Neurology & Genetics and Archbishop Makarios III Medical Centre Nicosia Cyprus

3. Department of Paediatrics Sykehuset Østfold HF Fredrikstad Norway

4. Department of Clinical Genetics Guy's and St Thomas' NHS Foundation Trust London UK

5. Department of Clinical Genetics Children's Hospital Ireland at Crumlin Dublin Ireland

6. South West Thames Regional Genetic Service, St George's Hospital Medical School London UK

7. Department of Child Neurology Medical University of Silesia Katowice Poland

8. Victorian Clinical Genetics Services, Murdoch Children's Research Institute Melbourne Australia

9. Department of Paediatrics University of Melbourne Melbourne Australia

10. Neurology Clinic D, The Cyprus Institute of Neurology & Genetics Nicosia Cyprus

11. Department of Genetics University Medical Centre Groningen Groningen The Netherlands

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24097

Reference38 articles.

1. KBP interacts with SCG10, linking Goldberg–Shprintzen syndrome to microtubule dynamics and neuronal differentiation

2. Hirschsprung disease, associated syndromes and genetics: a review

3. Critical numbers of neural crest cells are required in the pathways from the neural tube to the foregut to ensure complete enteric nervous system formation

4. Facial cleft and congenital megacolon: A specific disorder?

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1. Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP gene;Clinical Genetics;2023-10-30

2. Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development;PLOS Genetics;2021-08-06

3. Goldberg-Shprintzen Syndrome Associated with a Novel Variant in the KIFBPGene;Molecular Syndromology;2021

4. The mechanism of kinesin inhibition by kinesin-binding protein;eLife;2020-11-30