Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome-Reference-Cited by-同舟云学术

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Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome

Published:2012-02 Issue:2 Volume:55 Page:103-108
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Mehawej Cybel,Chouery Eliane,Maalouf Diane,Baujat Geneviève,Le Merrer Martine,Cormier-Daire Valérie,Mégarbané André

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference22 articles.

1. A newly recognized dwarfing syndrome;Robinow;Am. J. Dis. Child.,1969

2. Robinow syndrome without mesomelic ‘brachymelia’: a report of five cases;Bain;J. Med. Genet.,1986

3. Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome;Mazzeu;Am. J. Med. Genet. A,2007

4. WNT5A mutations in patients with autosomal dominant Robinow syndrome;Person;Dev. Dyn.,2010

5. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2;Afzal;Nat. Genet.,2000

Cited by 12 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. Structure and function of the ROR2 cysteine-rich domain in vertebrate noncanonical WNT5A signaling;ELIFE;2024

2. Structure and function of the ROR2 cysteine-rich domain in vertebrate noncanonical WNT5A signaling;eLife;2024-05-23

3. Genetic determinants of syndactyly: perspectives on pathogenesis and diagnosis;Orphanet Journal of Rare Diseases;2022-05-12

4. Phenotypic and mutational spectrum of ROR2 ‐related Robinow syndrome;Human Mutation;2022-05-10

5. Structure and function of the ROR2 cysteine-rich domain in vertebrate noncanonical WNT5A signaling;2021-07-26

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