Novel CDK10 variants with multicystic dysplastic kidney, left ventricular non‐compaction, and a solitary median maxillary central incisor-Reference-Cited by-同舟云学术

Novel CDK10 variants with multicystic dysplastic kidney, left ventricular non‐compaction, and a solitary median maxillary central incisor

Published:2021-06-11 Issue:3 Volume:100 Page:348-349
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Darcha Claude¹^ORCID,Laffargue Fanny²,Boutaud Lucile³⁴,Gallot Denis⁵,Dauphin Claire⁶,Garcier Jean Marc⁷,Achaiaa Amale³,Nitschke Patrick⁸,Fourrage Cécile⁸,Goumy Carole⁹,Attie‐Bitach Tania³⁴^ORCID

Affiliation:

1. Service d'Anatomopathologie CHU Estaing Clermont‐Ferrand France

2. Service de Génétique Médicale CHU Estaing Clermont‐Ferrand France

3. Service d'Histologie‐Embryologie‐Cytogénétique Unité d'Embryo‐Foetopathologie, Hôpital Necker‐Enfants Malades, APHP Paris France

4. Université de Paris, INSERM UMR 1163, Imagine Institute Paris France

5. Genetics, Reproduction and Development (GReD) Laboratory Clermont Auvergne University, CNRS UMR 6293, Inserm U1103, translational approach to epithelial injury and repair team Clermont‐Ferrand France

6. Service de Cardiologie, Centre de Compétence M3C, CHU Clermont‐Ferrand Clermont‐Ferrand France

7. Laboratoire d'Anatomie, UFR de Médecine Université Clermont‐Auvergne Clermont‐Ferrand France

8. Bioinformatics Platform, INSERM UMR 1163, Institut Imagine Paris France

9. Université Clermont Auvergne, INSERM, U1240 Imagerie Moléculaire et Stratégies Théranostiques Clermont‐Ferrand France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13996

Reference4 articles.

1. A homozygous deleteriousCDK10mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness

2. CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays

3. STAR syndrome is part of the differential diagnosis of females with anorectal malformations

4. The solitary median maxillary central incisor (SMMCI) syndrome: Associations, prenatal diagnosis, and outcomes

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1. A pair of twins with multicystic dysplastic kidney and hydrocephalus caused by a novel homozygous mutation in SPATA33 and CDK10;QJM: An International Journal of Medicine;2024-01-05

2. Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation;Orphanet Journal of Rare Diseases;2021-11-24