Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants-Reference-Cited by-同舟云学术

Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants

Published:2017-03-30 Issue:3 Volume:92 Page:350-351
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Santos-Simarro F.¹²,Vallespin E.²³,del Pozo A.²⁴,Ibañez K.²⁴,Silla J.C.²⁴,Fernandez L.²³,Nevado J.²³,González-Pecellín H.²³,Montaño V.E.F.²³,Martin R.²³,Alba Valdivia L.I.³,García-Miñaúr S.¹²,Lapunzina P.¹²,Palomares-Bralo M.²³^ORCID

Affiliation:

1. Sección de genética clínica, Instituto de Genética Médica y Molecular (INGEMM); Hospital Universitario La Paz; Madrid Spain

2. Unidad 753; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII; Madrid Spain

3. Sección de genómica estructural y funcional, Instituto de Genética Médica y Molecular (INGEMM); Hospital Universitario La Paz; Madrid Spain

4. Sección de bioinformática, Instituto de Genética Médica y Molecular (INGEMM); Hospital Universitario La Paz; Madrid Spain

Funder

Instituto de Salud Carlos III

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12965/fullpdf

Reference3 articles.

1. SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant;Dauber;Am J Hum Genet,2013

2. Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation;McRae;BioRxiv,2016

3. Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature;El Chehadeh;Eur J Hum Genet,2016

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