Polydactyly Patient Carried a Mutation of PTCH1 Which Has Been Identified in Nevoid Basal Cell Nevus Syndrome-Reference-Cited by-同舟云学术

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Polydactyly Patient Carried a Mutation of PTCH1 Which Has Been Identified in Nevoid Basal Cell Nevus Syndrome

Published:2020-10-01 Issue:10 Volume:39 Page:1754-1759
ISSN:1044-5498
Container-title:DNA and Cell Biology
language:en
Short-container-title:DNA and Cell Biology

Author:

Cao Ruixue¹,Liu Sijie²,Chai Weiran³,Shen Pinquan⁴

Affiliation:

1. Department of Pediatrics, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, P.R. China.

2. Department of Pediatric Cardiology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, P.R. China.

3. Department of Assisted Reproduction, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, P.R. China.

4. Department of Pediatric Orthopedics, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, P.R. China.

Publisher

Mary Ann Liebert Inc

Subject

Cell Biology,Genetics,Molecular Biology,General Medicine

Link

https://www.liebertpub.com/doi/pdf/10.1089/dna.2019.5236

Reference35 articles.

1. A novel frameshift mutation of theGLI3gene in a family with broad thumbs with/without big toes, postaxial polydactyly and variable syndactyly of the hands/feet

2. Evaluating Smoothened as a G-protein-coupled receptor for Hedgehog signalling

3. Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)

4. Patterning Mechanisms Controlling Vertebrate Limb Development

5. Patterning and post-patterning modes of evolutionary digit loss in mammals

Cited by 1 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. Case Report: Prenatal Diagnosis of Postaxial Polydactyly With Bi-Allelic Variants in Smoothened (SMO);Frontiers in Genetics;2022-06-22

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