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Journal of Obstetrics and Gynaecology Volume 33, 2013 - Issue 1
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Review Article

Recurrent short rib polydactyly syndrome

M. Eleftheriades2nd Department of Obstetrics and Gynecology, University of Athens, Aretaieio Hospital;Embryocare, Fetal Medicine UnitCorrespondence[email protected]
,
C. Iavazzo2nd Department of Obstetrics and Gynecology, University of Athens, Aretaieio Hospital
,
E. ManolakosEurogenetica SA, Athens, Greece
,
D. Hassiakos2nd Department of Obstetrics and Gynecology, University of Athens, Aretaieio Hospital
,
D. Botsis2nd Department of Obstetrics and Gynecology, University of Athens, Aretaieio Hospital
,
M. PetersenDepartment of Clinical Genetics, Aalborg Hospital, Aarhus University Hospital, Denmark
&
A. Konstantinidou1st Department of Pathology, University of Athens, Athens, Greece
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Pages 14-16 | Published online: 21 Dec 2012

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Yi He, Yu-Juan Li, Li-Li Xu & Dong-Zhi Li. (2020) Short-rib polydactyly syndrome presenting with recurrent severe first-trimester phenotypes: the utility of exome sequencing in deciphering variants of DYNC2H1 gene. Journal of Obstetrics and Gynaecology 40:6, pages 874-876.
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Articles from other publishers (5)

Ying Peng, Lin Zhou, Jing Chen, Xiaoliang Huang, Jialun Pang, Jing Liu, Wanglan Tang, Shuting Yang, Changbiao Liang & Wanqin Xie. (2023) Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting. BMC Medical Genomics 16:1.
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Matthias W. Wagner, Andrea Poretti, Jane E. Benson & Thierry A. G. M. Huisman. (2017) Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review. Journal of Neuroimaging 27:2, pages 162-209.
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Dan Meng & Junmin Pan. 2017. Chlamydomonas: Biotechnology and Biomedicine. Chlamydomonas: Biotechnology and Biomedicine 73 97 .
. 2016. Diagnostic Imaging: Obstetrics. Diagnostic Imaging: Obstetrics 722 725 .
Y. Tsurusaki, R. Yonezawa, M. Furuya, G. Nishimura, R.K. Pooh, M. Nakashima, H. Saitsu, N. Miyake, S. Saito & N. Matsumoto. (2014) Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss . Clinical Genetics 85:6, pages 592-594.
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