Newborn with isolated severe deficiency of cranial vault ossification: a case of cleidocranial dysplasia-Reference-Cited by-同舟云学术

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Newborn with isolated severe deficiency of cranial vault ossification: a case of cleidocranial dysplasia

Published:2023-07-10 Issue: Volume: Page:fetalneonatal-2023-325794
ISSN:1359-2998
Container-title:Archives of Disease in Childhood - Fetal and Neonatal Edition
language:en
Short-container-title:Arch Dis Child Fetal Neonatal Ed

Author:

Borelli Elena^ORCID,Aversa Salvatore^ORCID,Motta Mario,Cavalleri Elisa,Cereda Claudio,Pinelli Lorenzo,Pilotta Alba,Risso Francesco Maria

Publisher

BMJ

Subject

Obstetrics and Gynecology,General Medicine,Pediatrics, Perinatology and Child Health

Reference5 articles.

1. Orphanet: an online database of rare diseases and orphan drugs . Cleidocranial dysplasia. Paris INSERM (French National Institute for Health and Medical Research); 2013. Available: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1452

2. Cleidocranial Dysplasia: A Review of Clinical, Radiological, Genetic Implications and a Guidelines Proposal

3. Mutations in theRUNX2 gene in patients with cleidocranial dysplasia

4. Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminalRUNX2 mutations

5. Cleidocranial dysplasia with severe parietal bone dysplasia: a new (p.Val124Serfs) RUNX2 mutation

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