A very rare skeletal dysplasia-Reference-Cited by-同舟云学术

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A very rare skeletal dysplasia

Published:2021-04-12 Issue: Volume:Publish Ahead of Print Page:
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Kalaoglu Elif Ece,Turkyılmaz Ayberk,Geckinli Bilgen Bilge,Arslan Ates Esra,Mentes Ali,Arman Ahmet

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics(clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology, and Child Health

Reference6 articles.

1. Bi-allelic variants in TONSL cause SPONASTRIME dysplasia and a spectrum of skeletal dysplasia phenotypes.;Burrage;Am J Hum Genet,2019

2. Hypomorphic mutations in TONSL cause SPONASTRIME dysplasia.;Chang;Am J Hum Genet,2019

3. The SPONASTRIME dysplasia: familial short-limb dwarfism with saddle nose, spinal alterations and metaphysealstriation. Report of 4 siblings.;Fanconi;HelvPaediatrActa,1983

4. Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts.;Gripp;Am J Med Genet A,2008

5. Arnold Chiari malformation with sponastrime (spondylar and nasal changes, with striations of the metaphyses) dysplasia: a case report.;Jeong;Medicine (Baltimore),2016

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