GGCX ‐related congenital combined vitamin K‐dependent clotting factors deficiency‐1: Description of a fetus with chondrodysplasia punctata-Reference-Cited by-同舟云学术

GGCX ‐related congenital combined vitamin K‐dependent clotting factors deficiency‐1: Description of a fetus with chondrodysplasia punctata

Published:2021-09-24 Issue:1 Volume:188 Page:314-318
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Mathonnet Alix¹^ORCID,Cunat Séverine²,Allias Fabienne³,Caillot Sandrine¹,Thonnon Cyrielle¹,Till Marianne⁴,Attié‐Bitach Tania⁵⁶,Touraine Renaud⁷,Meunier Sandrine⁸,Cartellier Charline⁹,Rossi Massimiliano⁴¹⁰^ORCID,Attia Jocelyne¹,Putoux Audrey⁴¹⁰^ORCID

Affiliation:

1. Hospices Civils de Lyon Centre Pluridisciplinaire de Diagnostic Prénatal, Centre Hospitalier Lyon Sud Pierre Bénite France

2. Département d'Hématologie Biologique Hôpital Saint Eloi, Centre Hospitalier Universitaire de Montpellier Montpellier France

3. Hospices Civils de Lyon, Service d'Anatomo‐Pathologie Centre Hospitalier Lyon Sud Pierre Bénite France

4. Hospices Civils de Lyon, Service de Génétique Centre de Référence Anomalies du Développement et Centre de Compétence Maladies Osseuses Constitutionnelles, Groupement Hospitalier Est Bron France

5. Service d'Histologie‐Embryologie‐Cytogenetique Hôpital Necker‐Enfants Malades, Assistance Publique‐Hôpitaux de Paris Paris France

6. INSERM UMR1163, Imagine Institute Université de Paris Paris France

7. Service de Génétique Hôpital Nord Saint Etienne France

8. Hospices Civils de Lyon, Unité d'Hémostase Clinique Centre de Référence Maladies Hémorragiques Constitutionnelles (CR‐MHC), Hôpital Cardiologique Bron France

9. Hospices Civils de Lyon Centre Pluridisciplinaire de Diagnostic Prénatal, Hôpital Femme Mère Enfant Bron France

10. Équipe GENDEV, Centre de Recherche en Neurosciences de Lyon INSERM U1028 CNRS UMR5292, Université Claude Bernard Lyon 1 Lyon France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62503

Reference18 articles.

1. Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review

2. Severe nasomaxillary hypoplasia (Binder phenotype) on prenatal US/MRI: an important marker for the prenatal diagnosis of chondrodysplasia punctata

3. Vitamin K–Dependent Coagulation Factors Deficiency

4. A Missense Mutation in γ-Glutamyl Carboxylase Gene Causes Combined Deficiency of All Vitamin K-Dependent Blood Coagulation Factors

5. Anthropometric measurements in the second trimester fetus

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