Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type: Further expanding the mutational spectrum and dental findings of three new patients-Reference-Cited by-同舟云学术

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Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type: Further expanding the mutational spectrum and dental findings of three new patients

Published:2023-04 Issue:4 Volume:66 Page:104708
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Akalın Akçahan^ORCID,Özşin Cansu,Koç Nagihan,Demir Gizem Ürel,Alanay Yasemin,Utine Eda,Boduroğlu Koray,Tekçiçek Meryem,Şimşek-Kiper Pelin Özlem

Funder

Hacettepe Üniversitesi

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference20 articles.

1. Spondylo-meta-epiphyseal dysplasia, short limb, abnormal calcification type;Al-Gazali;Clin. Dysmorphol.,1996

2. A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking;Al-Kindi;BMC Med. Genet.,2014

3. Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients;Ali;Hum. Mol. Genet.,2010

4. ACMG guides on the interpretation of sequence variants;Bahcall;Nat. Rev. Genet.,2015

5. Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications;Bargal;Am. J. Hum. Genet.,2009

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