Pseudodominant inheritance of Langer mesomelic dysplasia caused by aSHOX homeobox missense mutation-Reference-Cited by-同舟云学术

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Pseudodominant inheritance of Langer mesomelic dysplasia caused by aSHOX homeobox missense mutation

Published:2002-05-29 Issue:2 Volume:110 Page:153-157
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Shears Deborah J.,Guillen-Navarro Encarna,Sempere-Miralles Manuel,Domingo-Jimenez Rosario,Scambler Peter J.,Winter Robin M.

Publisher

Wiley

Subject

Genetics (clinical)

Reference14 articles.

1. Molecular evolution of the homeodomain family of transcription factors

2. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

3. Langer type of mesomelic dwarfism as the possible homozygous expression of dyschondrosteosis

4. Homeodomain-DNA recognition

Cited by 31 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. Leri–Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant;Genes;2023-04-07

2. Targeting G-quadruplex for rescuing impaired chondrogenesis in WRN-deficient stem cells;Cell & Bioscience;2022-12-31

3. Rare dosage abnormalities flanking the SHOX gene;Egyptian Journal of Medical Human Genetics;2021-12

4. Clinical and Genetic Characteristics of 23 Korean Patients with Haploinsufficiency of the Short-stature Homeobox-containing Gene;Experimental and Clinical Endocrinology & Diabetes;2020-09-15

5. Heterozygous Deletion of the SHOX Gene Enhancer in two Females With Clinical Heterogeneity Associating With Skewed XCI and Escaping XCI;Frontiers in Genetics;2019-11-06

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