Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature-Reference-Cited by-同舟云学术

Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature

Published:2016-09-13 Issue:2 Volume:173 Page:479-486
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Mary Laura¹,Scheidecker Sophie²,Kohler Monique³,Lombardi Maria-Paola⁴,Delezoide Anne-Lise⁵,Auberger Elisabeth⁶,Triau Stéphane⁷,Colin Estelle⁸,Gerard Marion⁹,Grzeschik Karl-Heinz¹⁰,Dollfus Hélène¹¹¹,Antal Maria Cristina¹¹¹²¹³

Affiliation:

1. Service de Génétique Médicale; Hôpitaux Universitaires de Strasbourg; Strasbourg France

2. Laboratoire de Cytogénétique; Hôpitaux Universitaires de Strasbourg; Strasbourg France

3. Service de Gynécologie et Obstétrique; Hôpitaux Universitaires de Strasbourg; Strasbourg France

4. Department of Clinical Genetics; Academisch Medisch Centrum; Amsterdam The Netherlands

5. Service de Biologie du Développement; Hôpital Robert Debré; Paris France

6. Anatomie et Cytologie Pathologiques; Hôpital Simone Veil; Groupement Hospitalier Eaubonne-Montmorency; Montmorency France

7. Laboratoire de Pathologie Cellulaire et Tissulaire-Fœtopathologie; Centre Hospitalier Universitaire d'Angers; Angers France

8. Département de Biochimie et Génétique; Centre Hospitalier Universitaire d'Angers; Angers France

9. Service de Génétique; Centre Hospitalier Universitaire de Caen; Caen France

10. Institut für Allgemeine Humangenetik; Philipps-Universitaet; Marburg Germany

11. Faculté de Médecine de Strasbourg; Strasbourg France

12. Hôpitaux Universitaires de Strasbourg; Strasbourg France

13. Fédération de Médecine Translationnelle; Strasbourg France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37974/fullpdf

Reference20 articles.

1. Deletion of mouse Porcn blocks Wnt ligand secretion and reveals an ectodermal etiology of human focal dermal hypoplasia/Goltz syndrome;Barrott;Proc Natl Acad Sci USA,2011

2. Porcupine homolog is required for canonical Wnt signaling and gastrulation in mouse embryos;Biechele;Dev Biol,2011

3. Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia;Brady;Eur J Hum Genet,2015

4. A nonsense porcn mutation in severe focal dermal hypoplasia with natal teeth;Dias;Fetal Pediatr Pathol,2010

5. Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia;Grzeschik;Nat Genet,2007

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1. Prenatal diagnosis of PORCN‐related developmental syndrome in a fetus: A novel phenotype;Prenatal Diagnosis;2023-09-12

2. Fetal Nasal Bone Hypoplasia in the Second Trimester as a Marker of Multiple Genetic Syndromes;Journal of Clinical Medicine;2022-03-10

3. Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature;Clinical Case Reports;2018-09-21

4. Importance of complete phenotyping in prenatal whole exome sequencing;Human Genetics;2018-02

5. Other Genodermatoses;Atlas of Skin Disorders;2018