Fetal and Pediatric Pathology, Volume 37, Issue 6 (2018)

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Fetal and Pediatric Pathology, Volume 37, Issue 6 (2018)

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Articles

Article
Placental Pathology in Beckwith–Wiedemann Syndrome According to Genotype/Epigenotype Subgroups
Lucie Gaillot-Durand, Frederic Brioude, Claire Beneteau, Frédérique Le Breton, Jerome Massardier, Lucas Michon, Mojgan Devouassoux-Shisheboran & Fabienne Allias
Pages: 387-399
Published online: 11 Jan 2019
AbstractforPlacental Pathology in Beckwith–Wiedemann Syndrome According to Genotype/Epigenotype Subgroups | Full Text | References | PDF (2.4 MB) | Supplemental
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Case Reports

Case Report
Novel Mutation of SYNGAP1 Associated with Autosomal Dominant Mental Retardation 5 in a Chinese Patient
Yuanyuan Pei, Wei Li, Li Du & Fengxiang Wei
Pages: 400-403
Published online: 21 Dec 2018
AbstractforNovel Mutation of SYNGAP1 Associated with Autosomal Dominant Mental Retardation 5 in a Chinese Patient | Full Text | References | PDF (477.2 KB)
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Case Report
SOPH Syndrome with Growth Hormone Deficiency, Normal Bone Age, and Novel Compound Heterozygous Mutations in NBAS
Xin Li, Qing Cheng, Niu Li, Guoying Chang, Yu Ding, Juan Li, Yiping Shen, Jian Wang & Xiumin Wang
Pages: 404-410
Published online: 28 Dec 2018
AbstractforSOPH Syndrome with Growth Hormone Deficiency, Normal Bone Age, and Novel Compound Heterozygous Mutations in NBAS | Full Text | References | PDF (994.3 KB)
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Case Report
Corpus Callosum Abnormalities and Short Femurs in Beckwith–Wiedemann Syndrome: A Report of Two Fetal Cases
Aurélie Beaufrère, Maryse Bonnière, Julia Tantau, Philippe Roth, Elodie Schaerer, Fréderic Brioude, Irène Netchine, Bettina Bessières, Antoinette Gelot, Michel Vekemans, Ferechté Razavi, Delphine Heron & Tania Attié-Bitach
Pages: 411-417
Published online: 31 Dec 2018
AbstractforCorpus Callosum Abnormalities and Short Femurs in Beckwith–Wiedemann Syndrome: A Report of Two Fetal Cases | Full Text | References | PDF (1.4 MB)
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Articles

Article
Prenatal Diagnosis of Merosin-Deficient Muscular Dystrophy
Erdem Fadiloglu, Gonca Ozten, Canan Unal, Beril Talim, Haluk Topaloglu & Mehmet Sinan Beksac
Pages: 418-423
Published online: 25 Oct 2018
AbstractforPrenatal Diagnosis of Merosin-Deficient Muscular Dystrophy | Full Text | References | PDF (724.5 KB)
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Case Reports

Case Report
Cholangitis Lenta Causing Bile Cast Nephropathy: A Unique Model of Hepatorenal Failure in Sepsis
Christopher Antonio Febres Febres Aldana & Robert J Poppiti
Pages: 424-432
Published online: 23 Oct 2018
AbstractforCholangitis Lenta Causing Bile Cast Nephropathy: A Unique Model of Hepatorenal Failure in Sepsis | Full Text | References | PDF (1.6 MB)
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Case Report
TRAP Sequence in Monochorionic/Monoamniotic (MC/MA) Discordant Twins: Two Cases Treated with Fetoscopic Laser Surgery
Gabriele Tonni, Gianpaolo Grisolia, Paolo Zampriolo, Federico Prefumo, Anna Fichera, Paola Bonasoni, Mathilde Lefebvre, Suonavy Khung-Savatovsky, Fabien Guimiot, Jonathan Rosenblatt & Edward Araujo Júnior
Pages: 433-447
Published online: 12 Jan 2019
AbstractforTRAP Sequence in Monochorionic/Monoamniotic (MC/MA) Discordant Twins: Two Cases Treated with Fetoscopic Laser Surgery | Full Text | References | PDF (3.3 MB)
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Case Report
A novel CFTR gene variant – p.Tyr517* associated with cystic fibrosis: a case report
Pratiksha Chheda, Tavisha Dama, Dollar Goradia, Shailesh Pande & Sushant Vinarkar
Pages: 448-451
Published online: 27 Dec 2018
AbstractforA novel CFTR gene variant – p.Tyr517* associated with cystic fibrosis: a case report | Full Text | References | PDF (690.8 KB)
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Articles

Article
UPD16 itself is not a cause of intrauterine growth restriction
Hui Wang, Caiqun Luo, Yang Liu, Shengli Li, Niping Jiang, Guanglin Zhang, Jiansheng Xie & Mei Zhong
Pages: 452-464
Published online: 23 Nov 2018
AbstractforUPD16 itself is not a cause of intrauterine growth restriction | Full Text | References | PDF (2.7 MB)
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Resident Report

Report
Multifocal Rounded Intraplacental Hematomas, Placental Abruption and Intrauterine Fetal Demise
Monique Sutherland & Randall Craver
Pages: 465-469
Published online: 28 Dec 2018
AbstractforMultifocal Rounded Intraplacental Hematomas, Placental Abruption and Intrauterine Fetal Demise | Full Text | References | PDF (835.1 KB)
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