“Hypothesis: Patient with possible disturbance in programmed cell death”: further insights in pathogenicity and clinical features of Fraser syndrome-Reference-Cited by-同舟云学术

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“Hypothesis: Patient with possible disturbance in programmed cell death”: further insights in pathogenicity and clinical features of Fraser syndrome

Published:2022-08-30 Issue:1 Volume:31 Page:16-17
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Rumping Lynne^ORCID,Hennekam Raoul C. M.,Alders Mariëlle,van Haelst Mieke M.^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-022-01175-x.pdf

Reference5 articles.

1. Hennekam RC, Cohen MM. Hypothesis: patient with possible disturbance in programmed cell death. Eur J Hum Genet. 1995;3:374–7.

2. van Haelst MM, Scambler PJ, Fraser Syndrome Collaboration Group, Hennekam RC. Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria. Am J Med Genet A. 2007;143A:3194–203.

3. McGregor L, Makela V, Darling SM, Vrontou S, Chalepakis G, Roberts C, et al. Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. Nat Genet. 2003;34:203–8.

4. Hines EA, Verheyden JM, Lashua AJ, Larson SC, Branchfield K, Domyan ET, et al. Syndactyly in a novel FRAS1rdf mutant results from interruption of signals for interdigital apoptosis. Dev Dyn. 2016;245:497–507.

5. Hoshi M, Reginensi A, Joens MS, Fitzpatrick JAJ, McNeill H, Jain S. Reciprocal spatiotemporally controlled apoptosis regulates Wolffian duct cloaca fusion. J Am Soc Nephrol. 2018;29:775–83.

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