Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies-Reference-Cited by-同舟云学术

Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies

Published:2018-04-21 Issue:5 Volume:176 Page:1091-1098
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Alby Caroline¹²³,Boutaud Lucile¹²³,Bessières Bettina³,Serre Valérie⁴,Rio Marlene³,Cormier‐Daire Valerie²³⁵,de Oliveira Judith¹³,Ichkou Amale³,Mouthon Linda³,Gordon Christopher T.¹²³^ORCID,Bonnière Maryse³,Mechler Charlotte³,Nitschke Patrick²⁶,Bole Christine²⁷,Lyonnet Stanislas¹²³,Bahi‐Buisson Nadia¹²³,Boddaert Nathalie²³⁸,Colleaux Laurence²⁹,Roth Philippe¹⁰,Ville Yves¹⁰,Vekemans Michel¹²³,Encha‐Razavi Féréchté¹²³,Attié‐Bitach Tania¹²³,Thomas Sophie¹²^ORCID

Affiliation:

1. Laboratory of Embryology and Genetics of Congenital MalformationsINSERM UMR1163 Institut ImagineParis France

2. Paris Descartes Sorbonne Paris CitéParis France

3. Department of geneticsHospital Necker‐Enfants Malades Assistance Publique Hôpitaux de Paris (AP‐HP)Paris, France

4. UMR7592 CNRS Jacques Monod Institute Paris Diderot UniversityParis France

5. Laboratory of Molecular and Physiopathological Bases of OsteochondrodysplasiaINSERM UMR1163 Institut ImagineParis France

6. Bioinformatics Core Facility Paris‐Descartes Sorbonne Paris Cité University Institut Imagine, Paris France

7. Genomics Core Facility, Paris Descartes‐Sorbonne Paris Cité University Institut ImagineParis, France

8. Department of Pediatric RadiologyHospital Necker‐Enfants Malades AP‐HPParis France

9. Laboratory of Molecular and Pathophysiological Bases of Cognitive DisordersINSERM UMR1163 Institut Imagine, Paris France

10. Department of Obstetrics and Fetal MedicineHospital Necker‐Enfants‐Malade APHPParis France

Funder

Agence Nationale de la Recherche

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38684

Reference34 articles.

1. Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation

2. Satb2 Regulates Callosal Projection Neuron Identity in the Developing Cerebral Cortex

3. Additional features of unique Primrose syndrome phenotype

4. Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome

5. THE SYNDROME OF MENTAL HANDICAP, CATARACTS, MUSCLE WASTING AND SKELETAL ABNORMALITIES: REPORT OF A SECOND CASE

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