Identification of a secondHOXA2nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology-Reference-Cited by-同舟云学术

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Identification of a secondHOXA2nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology

Published:2016-09-13 Issue:5 Volume:91 Page:774-779
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Piceci F.¹,Morlino S.²,Castori M.²,Buffone E.³,De Luca A.¹,Grammatico P.²,Guida V.¹

Affiliation:

1. Mendel Laboratory; Casa Sollievo della Sofferenza Hospital, IRCCS; San Giovanni Rotondo Italy

2. Laboratory of Medical Genetics, Department of Molecular Medicine; Sapienza University, San Camillo-Forlanini Hospital; Rome Italy

3. Division of Neonatology and Neonatal Intensive Care; San Camillo-Forlanini Hospital; Rome Italy

Funder

Italian Ministry of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12845/fullpdf

Reference24 articles.

1. Elements of morphology: standard terminology for the ear;Hunter;Am J Med Genet A,2009

2. The epidemiology of anotia and microtia;Harris;J Med Genet,1996

3. De novo trisomy 22 due to an extra 22Q-chromosome;Stoll;Ann Genet,1997

4. Microtia: epidemiology and genetics;Luquetti;Am J Med Genet A,2012

5. Sensitivity, specificity, and positive predictive value of multiple malformations in isotretinoin embryopathy surveillance;Lynberg;Teratology,1990

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1. Genetics and Epigenetics in the Genesis and Development of Microtia;Journal of Craniofacial Surgery;2024-02-12

2. A multiple super-enhancer region establishes inter-TAD interactions and controls Hoxa function in cranial neural crest;Nature Communications;2023-06-05

3. The role of genetic factors in microtia: A systematic review;F1000Research;2023-04-26

4. Risk Factors of Isolated Microtia: A Systematic Review and Meta-Analysis;Plastic & Reconstructive Surgery;2022-12-09

5. The Enigmatic Etiology of Oculo-Auriculo-Vertebral Spectrum (OAVS): An Exploratory Gene Variant Interaction Approach in Candidate Genes;Life;2022-10-28

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