In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome-Reference-Cited by-同舟云学术

In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

Published:2012-11 Issue:5 Volume:91 Page:950-957
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Carmignac Virginie,Thevenon Julien,Adès Lesley,Callewaert Bert,Julia Sophie,Thauvin-Robinet Christel,Gueneau Lucie,Courcet Jean-Benoit,Lopez Estelle,Holman Katherine,Renard Marjolijn,Plauchu Henri,Plessis Ghislaine,De Backer Julie,Child Anne,Arno Gavin,Duplomb Laurence,Callier Patrick,Aral Bernard,Vabres Pierre,Gigot Nadège,Arbustini Eloisa,Grasso Maurizia,Robinson Peter N.,Goizet Cyril,Baumann Clarisse,Di Rocco Maja,Sanchez Del Pozo Jaime,Huet Frédéric,Jondeau Guillaume,Collod-Beroud Gwenaëlle,Beroud Christophe,Amiel Jeanne,Cormier-Daire Valérie,Rivière Jean-Baptiste,Boileau Catherine,De Paepe Anne,Faivre Laurence

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference24 articles.

1. Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis;Robinson;Am. J. Med. Genet. A.,2005

2. A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias;Shprintzen;J. Craniofac. Genet. Dev. Biol.,1982

3. Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome;Adès;Am. J. Med. Genet.,1995

4. Molecular pathology of Shprintzen-Goldberg syndrome;Kosaki;Am. J. Med. Genet. A.,2006

5. Overall intelligibility, language, articulation, voice and resonance characteristics in a child with Shprintzen-Goldberg syndrome;Van Lierde;Int. J. Pediatr. Otorhinolaryngol.,2007

Cited by 94 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Targeted next‐generation sequencing reveals the genetic mechanism of Chinese Marfan syndrome cohort with ocular manifestation;Molecular Genetics & Genomic Medicine;2024-07

2. Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder gene;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2024-04-09

3. Pectus excavatum and carinatum: a narrative review of epidemiology, etiopathogenesis, clinical features, and classification;Journal of Thoracic Disease;2024-02

4. Hereditary Thoracic Aortic Diseases;Diagnostics;2024-01-04

5. Aortic and arterial diseases (Aortopathies);Genomic and Molecular Cardiovascular Medicine;2024