Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R-Reference-Cited by-同舟云学术

Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R

Published:2015-12-21 Issue:4 Volume:170 Page:891-895
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Atwal Paldeep Singh¹²³,Blease Sophie¹,Braxton Alicia²,Graves Julia⁴,He Weimin²,Person Richard²,Slattery Leah¹,Bernstein Jonathan Adam¹,Hudgins Louanne¹

Affiliation:

1. Department of Pediatrics, Division of Medical Genetics; Stanford University; Stanford California

2. Department of Molecular & Human Genetics; Baylor College of Medicine; Houston Texas

3. Mayo Clinic; Center for Individualized Medicine FL, Clinical Genomics; Jacksonville Florida

4. Private Practice Oakland; Oakland California

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37491/fullpdf

Reference10 articles.

1. Familial cardiac valvulopathy due to filamin A mutation;Bernstein;Am J Med Genet,2011

2. Goeminne syndrome (OMIM 314300): Another male patient 30 years later;Fryns;Genet Counsel,2003

3. A new probably X-linked inherited syndrome: Congenital torticollis, multiple keloids, cryptorchidism, and renal dysplasia;Goeminne;Acta Genet Med Gemellol,1968

4. A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome;Hehr;J Med Genet Jun,2006

5. A report of an apparent new genetic syndrome consisting of joint contractures, keloids, large optic cup-to-disc ratio and renal stones;Heyen;Am J Med Genet Part A,2008

Cited by 20 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. Global insights into keloid formation: An international systematic review of regional genetic risk factors and commonalities;Wound Repair and Regeneration;2024-07-03

2. Keloid disease: Review with clinical atlas. Part I: Definitions, history, epidemiology, clinics and diagnosis;Annales de Dermatologie et de Vénéréologie;2023-03

3. Phenotypic manifestations inFLNA-related periventricular nodular heterotopia: a case report and review of the literature;BMJ Case Reports;2022-04

4. Molecular Modeling and Phenotypic Description of a Patient with a Novel Exonic Deletion of <b><i>GALNS</i></b> with Resultant Morquio Syndrome with Two Successful Pregnancies;Molecular Syndromology;2022-03-09

5. Exon skip‐inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia;American Journal of Medical Genetics Part A;2021-07-17