Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking-Reference-Cited by-同舟云学术

Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking

Published:2019-12 Issue: Volume:21 Page:100504
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Piccolo Pasquale,Sabatino Valeria,Mithbaokar Pratibha,Polishchuck Elena,Law Simon K.,Magraner-Pardo Lorena,Pons Tirso,Polishchuck Roman,Brunetti-Pierri Nicola

Funder

Fondazione Telethon, Italy

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference30 articles.

1. Geleophysic dwarfism—a "focal" mucopolysaccharidosis?;Spranger;Lancet,1971

2. Geleophysic dysplasia: a report of three affected boys—prenatal ultrasound does not detect recurrence;Rosser;Am. J. Med. Genet.,1995

3. ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation;Le Goff;Nat. Genet.,2008

4. Mutations in the TGFbeta binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias;Le Goff;Am. J. Hum. Genet.,2011

5. Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia;McInerney-Leo;J. Med. Genet.,2016

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3. ADAMTSL2 mutations determine the phenotypic severity in Geleophysic Dysplasia;JCI Insight;2024-02-01

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