CKAP2L mutation confirms the diagnosis of Filippi syndrome-Reference-Cited by-同舟云学术

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CKAP2L mutation confirms the diagnosis of Filippi syndrome

Published:2018-02-23 Issue:5 Volume:93 Page:1109-1110
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Capecchi G.¹,Baldassarri M.²³,Ferranti S.¹^ORCID,Guidoni E.¹,Cioni M.¹,Nürnberg P.⁴,Mencarelli M.A.³,Renieri A.²³^ORCID,Grosso S.¹

Affiliation:

1. Dipartimento di Medicina molecolare e dello sviluppo; Clinica Pediatrica; Siena Italy

2. Medical Genetics; University of Siena; Siena Italy

3. Genetica Medica; Azienda Ospedaliera Universitaria Senese; Siena Italy

4. Cologne Center for Genomics; University of Cologne; Cologne Germany

Funder

Telethon Italy

EuroBioBank

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13188/fullpdf

Reference5 articles.

1. Unusual facial appearance, microcephaly, growth and mental retardation, and syndactyly. A new syndrome?;Filippi;Am J Med Genet,1985

2. Mutations in CKAP2L, the human homolog of the mouse radmis gene, cause filippi syndrome;Hussain;Am J Hum Genet,2014

3. Filippi syndrome: further clinical characterization;Battaglia;Am J Med Genet A,2008

4. Filippi syndrome: report of a rare case;Goyal;J Clin Diagn Res,2015

5. A 2q24.3q31.1 microdeletion found in a patient with Filippi-like syndrome phenotype: a case report;Lazier;Am J Med Genet A,2014

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1. Filippi syndrome: Three new families suggest that urinary system abnormalities may belong to clinical spectrum of the disease;American Journal of Medical Genetics Part A;2024-05-13

2. The transcriptional state and chromatin landscape of cichlid jaw shape variation across species and environments;Molecular Ecology;2023-05-09

3. Prognostic significance of CKAP2L expression in patients with clear cell renal cell carcinoma;Frontiers in Genetics;2023-01-09

4. Expansion of the neurodevelopmental phenotypic spectrum of CKAP2L ‐related Filippi syndrome to include an adolescent male with normal intellect;American Journal of Medical Genetics Part A;2022-02-28

5. Novel variants identified in CKAP2L in two siblings with Filippi Syndrome;Molecular Case Studies;2021-12-17

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