Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1-Reference-Cited by-同舟云学术

Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1

Published:2019-03 Issue: Volume:120 Page:495-503
ISSN:8756-3282
Container-title:Bone
language:en
Short-container-title:Bone

Author:

Howaldt Antonia,Nampoothiri Sheela,Quell Lisa-Marie,Ozden Ayse,Fischer-Zirnsak Björn,Collet Corinne,de Vernejoul Marie-Christine,Doneray Hakan,Kayserili Hülya,Kornak Uwe^ORCID

Funder

Berlin Institute of Health

Seventh Framework Programme

Federal Ministry of Education and Research

Publisher

Elsevier BV

Subject

Histology,Physiology,Endocrinology, Diabetes and Metabolism

Reference37 articles.

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3. Type II autosomal dominant osteopetrosis (Albers-Schonberg disease): clinical and radiological manifestations in 42 patients;Benichou;Bone,2000

4. Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis;Campeau;Hum. Mol. Genet.,2012

5. Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis;Campos-Xavier;Hum. Genet.,2003

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