A patient with a unique frameshift mutation in GPC3 , causing Simpson-Golabi-Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle-Reference-Cited by-同舟云学术

A patient with a unique frameshift mutation in GPC3 , causing Simpson-Golabi-Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle

Published:2013-10-02 Issue:12 Volume:161 Page:3121-3125
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Villarreal Diana D.¹,Villarreal Humberto²,Paez Ana Maria³,Peppas Dennis²,Lynch Jane³,Roeder Elizabeth⁴,Powers George C.⁵

Affiliation:

1. Department of Cellular and Structural Biology; School of Medicine; The University of Texas Health Science Center at San Antonio; San Antonio Texas

2. Division of Pediatric Urology; Department of Urology; The University of Texas Health Science Center at San Antonio; San Antonio Texas

3. Division of Endocrinology and Diabetes; Department of Pediatrics; The University of Texas Health Science Center at San Antonio; San Antonio Texas

4. Division of Genetics and Metabolic Disorders; Department of Pediatrics; The University of Texas Health Science Center at San Antonio; San Antonio Texas

5. Pediatrix Medical Group Neonatology and Department of Pediatrics; The University of Texas Health Science Center at San Antonio; San Antonio Texas

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36086/fullpdf

Reference35 articles.

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3. Glypican-3-deficient mice exhibit developmental overgrowth and some of the abnormalities typical of Simpson-Golabi-Behmel syndrome;Cano-Gauci;J Cell Biol,1999

4. Overgrowth of a mouse model of Simpson-Golabi-Behmel syndrome is partly mediated by Indian hedgehog;Capurro;EMBO Rep,2009

5. Simpson-Golabi-Behmel syndrome: Congenital diaphragmatic hernia and radiologic findings in two patients and follow-up of a previously reported case;Chen;Am J Med Genet,1993

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2. Novel GPC3 Gene Mutation in Simpson-Golabi-Behmel Syndrome with Endocrine Anomalies: A Case Report;Balkan Journal of Medical Genetics;2021-11-01

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