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Fetal and Pediatric Pathology Volume 29, 2010 - Issue 2
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Research Article

A SPECTRUM OF PHENOTYPICAL EXPRESSION OF NEU-LAXOVA SYNDROME: Three Case Reports and a Review of the Literature

Wendy L. Coto-PuckettDepartment of Neonatology, Emory University and Children's Healthcare of Atlanta, Atlanta, Georgia
,
Enid Gilbert-BarnessDepartments of Pathology, Pediatrics, and Obstetrics and Gynecology, University of South Florida and Tampa General Hospital, Tampa, Florida
,
Charlotte K. SteelmanDepartment of Pediatric Pathology, Children's Healthcare of Atlanta, Atlanta, Georgia
,
Tami StuartDepartment of Pediatric Pathology, Emory University and Children's Healthcare of Atlanta, Atlanta, Georgia
,
Haynes B. RobinsonDepartments of Pathology and Genetics, Akron Children's Hospital, Akron, Ohio
&
Bahig M. ShehataDepartment of Pediatric Pathology, Emory University and Children's Healthcare of Atlanta, Atlanta, GeorgiaCorrespondence[email protected]
Pages 108-119 | Published online: 24 Mar 2010

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Amber M. Wood, Amy T. Mottola, Eleanor H. Rhee & Jeffrey A. Kuller. (2018) Prenatal genetic diagnosis of Neu-Laxova syndrome. Journal of Obstetrics and Gynaecology 38:3, pages 413-414.
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Meenakshi Badakali, Ashok Badakali & Vijay Dombale. (2012) Rare Manifestations of Neu-Laxova Syndrome. Fetal and Pediatric Pathology 31:1, pages 1-5.
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Articles from other publishers (14)

Carolina Ferreira Gonçalves, Alexandra Andrade, Patrícia Silva, Cremilda Barros, Carmo Camacho & Edite Costa. (2023) Neu Laxova Syndrome—A Terrifying Disease in Two Siblings With a Novel Variant in PHGDH Gene . Journal of Neonatology.
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Pragya Virendrakumar Jain, Jauntea Maxey, Michael W Lawlor & Lauren N Parsons. (2023) Putting It All Together: Postmortem Diagnosis of a Rare Ichthyosis Syndrome. Cureus.
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Fatima Abdelfattah, Ariana Kariminejad, Anne‐Karin Kahlert, Patrick J. Morrison, Evren Gumus, Katherine D. Mathews, Benjamin W. Darbro, David J. Amor, Maie Walsh, Yves Sznajer, Luisa Weiß, Sabine Weidensee, David Chitayat, Patrick Shannon, Eva Bermejo‐Sánchez, Isolina Riaño‐Galán, Ian Hayes, Gemma Poke, Caroline Rooryck, Perrine Pennamen, Suonavy Khung‐Savatovsky, Annick Toutain, Marie‐Laure Vuillaume, Siavash Ghaderi‐Sohi, Mohamad H. Kariminejad, Sönke Weinert, Heinrich Sticht, Martin Zenker & Denny Schanze. (2020) Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders. Human Mutation 41:9, pages 1615-1628.
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Thiago R. Cavole, Eduardo Perrone, Felipe S. C. Lucena de Castro, Ana B. Alvarez Perez, Angela Flávia L. Waitzberg & Mirlene C. S. P. Cernach. (2020) Clinical, molecular, and pathological findings in a Neu–Laxova syndrome stillborn: A Brazilian case report. American Journal of Medical Genetics Part A 182:6, pages 1473-1476.
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Danielle K. Bourque, Mireille Cloutier, Kristin D. Kernohan, Eric Bareke, David Grynspan, Jean Michaud & Kym M. Boycott. (2019) Neu–Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis. American Journal of Medical Genetics Part A 179:5, pages 813-816.
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Harold ChenHarold Chen. 2017. Atlas of Genetic Diagnosis and Counseling. Atlas of Genetic Diagnosis and Counseling 2077 2084 .
Adeline Jacquinet, Debra Millar & Anna Lehman. (2016) Etiologies of uterine malformations. American Journal of Medical Genetics Part A 170:8, pages 2141-2172.
Crossref
. 2016. Diagnostic Imaging: Obstetrics. Diagnostic Imaging: Obstetrics 976 977 .
Harold ChenHarold Chen. 2016. Atlas of Genetic Diagnosis and Counseling. Atlas of Genetic Diagnosis and Counseling 1 8 .
Ona M. Faye-Petersen & Debra S. Heller. (2015) Pathology of the Stillborn Infant for the General Pathologist. Advances in Anatomic Pathology 22:2, pages 71-93.
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Deren ÖzcanMurat DerbentDeniz SeçkinYunus Emre BikmazMuhteşem AğildereAnnachiara De Sandre-GiovannoliNicolas LévyBerkan Gürakan. (2013) A Collodion Baby with Facial Dysmorphism, Limb Anomalies, Pachygyria and Genital Hypoplasia: A Mild Form of Neu-Laxova Syndrome or a New Entity?. Annals of Dermatology 25:4, pages 483.
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Shogo Tsujikawa, Ryu Okutani, Kenji Tsujii & Yutaka Oda. (2012) Anesthetic management of three pediatric cases with Pena–Shokeir syndrome. Journal of Anesthesia 26:3, pages 445-448.
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. 2012. Atlas of Genetic Diagnosis and Counseling. Atlas of Genetic Diagnosis and Counseling 1521 1526 .
Al-Lawama Manar & Basha Asma. (2010) Neu-Laxova syndrome: A new patient with detailed antenatal and post-natal findings. American Journal of Medical Genetics Part A 152A:12, pages 3193-3196.
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