A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis-Reference-Cited by-同舟云学术

A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis

Published:2014-01-23 Issue:4 Volume:164 Page:1035-1040
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Girisha Katta M.¹,Abdollahpour Hengameh²,Shah Hitesh³,Bhavani Gandham SriLakshmi¹,Graham John M.⁴,Boggula Vijay Raju⁵,Phadke Shubha R.⁵,Kutsche Kerstin²

Affiliation:

1. Division of Medical Genetics; Department of Pediatrics; Kasturba Medical College; Manipal University; Manipal India

2. Institute of Human Genetics; University Medical Center Hamburg-Eppendorf; Hamburg Germany

3. Pediatric Orthopedics Service; Department of Orthopedics; Kasturba Medical College; Manipal University; Manipal India

4. Medical Genetics Institute; Cedars Sinai Medical Center; David Geffen School of Medicine at UCLA; Los Angeles California

5. Department of Medical Genetics; Sanjay Gandhi Postgraduate Institute of Medical Sciences; Lucknow India

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36381/fullpdf

Reference22 articles.

1. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB;Bicknell;J Med Genet,2007

2. Platelet-derived growth factor A chain: Gene structure, chromosomal location, and basis for alternative mRNA splicing;Bonthron;Proc Natl Acad Sci USA,1988

3. PDGF-A signaling is a critical event in lung alveolar myofibroblast development and alveogenesis;Bostrom;Cell,1996

4. Platelet-derived growth factor signaling in mesenchymal cells;Donovan;Front Biosci (Landmark Ed),2013

5. Osteosclerotic bone dysplasia in siblings with a Fam20C mutation;Fradin;Clin Genet,2011

Cited by 5 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. Rearreglo cromosómico complejo en preescolar con trastorno del neurodesarrollo, múltiples dismorfias y cardiopatía congénita;Revista Mexicana de Pediatría;2022

2. Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in India;Bone;2019-03

3. A review of skeletal dysplasia research in India;Journal of Postgraduate Medicine;2018

4. A CNV Catalogue;Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis;2017

5. Screening for Subtelomeric Rearrangements in Thai Patients with Intellectual Disabilities Using FISH and Review of Literature on Subtelomeric FISH in 15,591 Cases with Intellectual Disabilities;Genetics Research International;2016-10-16