Parietal aplasia and hypophosphatasia in a child harboring a novel mutation in RUNX2 and a likely pathogenic variant in TNSALP-Reference-Cited by-同舟云学术

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Parietal aplasia and hypophosphatasia in a child harboring a novel mutation in RUNX2 and a likely pathogenic variant in TNSALP

Published:2021-05 Issue: Volume:146 Page:115904
ISSN:8756-3282
Container-title:Bone
language:en
Short-container-title:Bone

Author:

Papadopoulou Anna,Bountouvi Evangelia,Sideri Vassiliki,Moutsatsou Paraskevi,Skarakis Nikitas Spyridon,Doulgeraki Artemis,Karachaliou Fotini Eleni

Funder

National and Kapodistrian University of Athens

Publisher

Elsevier BV

Subject

Histology,Physiology,Endocrinology, Diabetes and Metabolism

Reference31 articles.

1. Cleidocranial Dysplasia Spectrum Disorder;Machol,1993

2. Cleidocranial dysplasia: clinical, endocrinologic and molecular findings in 15 patients from 11 families;Dincsoy Bir;European journal of medical genetics,2017

3. Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia;Ott;Hum. Mutat.,2010

4. Molecular genetics of Cleidocranial dysplasia;Motaei;Fetal and pediatric pathology,2020

5. Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives;Offiah;Pediatr. Radiol.,2019

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Two Novel C-Terminus RUNX2 Mutations in Two Cleidocranial Dysplasia (CCD) Patients Impairing p53 Expression;International Journal of Molecular Sciences;2021-09-25

2. Hypophosphatasia and cleidocranial dysplasia—a case report and review of the literature: the role of the neurosurgeon;Child's Nervous System;2021-06-15

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