Literature DB >> 31271512

Classification of arthrogryposis.

Judith G Hall1, Eva Kimber2, Klaus Dieterich3.   

Abstract

There is a need for a system to classify various forms of arthrogryposis. None is satisfactory or complete. Nevertheless, several have been developed to meet the needs of clinicians, prenatal diagnosticians, researchers, and basic scientists. They all await more insight into basic mechanisms.
© 2019 Wiley Periodicals, Inc.

Entities:  

Keywords:  arthrogryposis; classification; clinical approach; molecular approach; tissue disorders

Mesh：

Year:  2019        PMID： 31271512     DOI： 10.1002/ajmg.c.31716

Source DB:  PubMed          Journal:  Am J Med Genet C Semin Med Genet        ISSN： 1552-4868            Impact factor:   3.908


  4 in total

1.  Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.

Authors:  Daniel Natera-de Benito; Julie A Jurgens; Alison Yeung; Irina T Zaharieva; Adnan Manzur; Stephanie P DiTroia; Silvio Alessandro Di Gioia; Lynn Pais; Veronica Pini; Brenda J Barry; Wai-Man Chan; James E Elder; John Christodoulou; Eleanor Hay; Eleina M England; Pinki Munot; David G Hunter; Lucy Feng; Danielle Ledoux; Anne O'Donnell-Luria; Rahul Phadke; Elizabeth C Engle; Anna Sarkozy; Francesco Muntoni
Journal:  Hum Mutat       Date:  2022-02-03       Impact factor: 4.878

2.  Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review.

Authors:  Miriam Potrony; Antoni Borrell; Narcís Masoller; Alfons Nadal; Leonardo Rodriguez-Carunchio; Karmele Saez de Gordoa Elizalde; Juan Francisco Quesada-Espinosa; Jose Luis Villanueva-Cañas; Montse Pauta; Meritxell Jodar; Irene Madrigal; Celia Badenas; Maria Isabel Alvarez-Mora; Laia Rodriguez-Revenga
Journal:  J Clin Med       Date:  2022-06-21       Impact factor: 4.964

3.  The Added Value of Whole-Exome Sequencing for Anomalous Fetuses With Detailed Prenatal Ultrasound and Postnatal Phenotype.

Authors:  Miao He; Liu Du; Hongning Xie; Lihe Zhang; Yujun Gu; Ting Lei; Ju Zheng; Dan Chen
Journal:  Front Genet       Date:  2021-07-22       Impact factor: 4.599

4.  A Genomic Approach to Delineating the Occurrence of Scoliosis in Arthrogryposis Multiplex Congenita.

Authors:  Xenia Latypova; Stefan Giovanni Creadore; Noémi Dahan-Oliel; Anxhela Gjyshi Gustafson; Steven Wei-Hung Hwang; Tanya Bedard; Kamran Shazand; Harold J P van Bosse; Philip F Giampietro; Klaus Dieterich
Journal:  Genes (Basel)       Date:  2021-07-08       Impact factor: 4.096
  4 in total

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