Caput membranaceum: A novel clinical presentation of ZIC1 related skull malformation and craniosynostosis
Author:
Affiliation:
1. Clinical Genetics Department Children's Health Ireland Dublin Ireland
2. Department of Paediatric Radiology Children's Health Ireland Dublin Ireland
3. National Paediatric Craniofacial Centre (NPCC) Children's Health Ireland Dublin Ireland
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61882
Reference19 articles.
1. The role of Zic genes in neural development
2. ZIC1 Function in Normal Cerebellar Development and Human Developmental Pathology
3. A global reference for human genetic variation
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1. Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1;Journal of Human Genetics;2023-11-10
2. Bone mineral density loci specific to the skull portray potential pleiotropic effects on craniosynostosis;Communications Biology;2023-07-04
3. Physiology and Clinical Manifestations of Pathologic Cranial Suture Widening;The Cleft Palate Craniofacial Journal;2023-06-04
4. The genetic overlap between osteoporosis and craniosynostosis;Frontiers in Endocrinology;2022-09-26
5. Genome Wide Association Metanalysis Of Skull Bone Mineral Density Identifies Loci Relevant For Osteoporosis And Craniosynostosis;2021-11-02
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