Prenatal diagnosis of cerebro‐oculo‐facio‐skeletal syndrome: Report of three fetuses and review of the literature-Reference-Cited by-同舟云学术

Prenatal diagnosis of cerebro‐oculo‐facio‐skeletal syndrome: Report of three fetuses and review of the literature

Published:2020-02-13 Issue:5 Volume:182 Page:1236-1242
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Le Van Quyen Pauline¹^ORCID,Calmels Nadège²³,Bonnière Maryse⁴,Chartier Suzanne⁴,Razavi Féréchté⁴,Chelly Jamel²,El Chehadeh Salima⁵,Baer Sarah⁵^ORCID,Boutaud Lucile⁴⁶,Bacrot Séverine⁴,Obringer Cathy³,Favre Romain⁷,Attié‐Bitach Tania⁴⁶,Laugel Vincent³⁸,Antal Maria C.¹⁹^ORCID

Affiliation:

1. Unité de Fœtopathologie, Service de PathologieHôpitaux Universitaires de Strasbourg Strasbourg France

2. Laboratoires de Diagnostic GénétiqueInstitut de Génétique Médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg Strasbourg France

3. Laboratoire de Génétique Médicale—INSERM U1112Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine, Université de Strasbourg Strasbourg France

4. Unité d'EmbryofœtopathologieService d'Histologie‐Embryologie‐Cytogénétique, Hôpital Necker‐Enfants Malades, AP‐HP Paris Cedex 15 France

5. Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA)Hôpitaux Universitaires de Strasbourg Strasbourg France

6. Inserm U1163, Institut ImagineUniversité Paris Descartes Paris Cedex 15 France

7. Service de Gynécologie‐Obstétrique, Centre Médico‐Chirurgical et Obstétrical (CMCO)Hôpitaux Universitaires de Strasbourg Schiltigheim Cedex France

8. Service de PédiatrieHôpitaux Universitaires de Strasbourg Strasbourg France

9. Institut d'Histologie, Faculté de MédecineUniversité de Strasbourg Strasbourg France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61520

Reference20 articles.

1. Xpg limits the expansion of haematopoietic stem and progenitor cells after ionising radiation

2. Cell-Autonomous Progeroid Changes in Conditional Mouse Models for Repair Endonuclease XPG Deficiency

3. Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome

4. Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

5. Suppression of UV-induced apoptosis by the human DNA repair protein XPG

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