标题
Simpson-Golabi-Behmel syndrome types I and II
作者
关键词
Simpson-Golabi-Behmel Syndrome, Overgrowth, GPC3, GPC4, Macrocephaly, Rare disorders, Glypican, Congenital anomalies, X-linked disorder
出版物
Orphanet Journal of Rare Diseases
Volume 9, Issue 1, Pages -
出版商
Springer Nature
发表日期
2014-09-19
DOI
10.1186/s13023-014-0138-0
参考文献
相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。- SomaticCTNNB1mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germlineGPC3mutation
- (2014) Rika Kosaki et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Impact of NGS in the medical sciences: genetic syndromes with an increased risk of developing cancer as an example of the use of new technologies
- (2014) Pablo Lapunzina et al. GENETICS AND MOLECULAR BIOLOGY
- The role of glypicans in Hedgehog signaling
- (2014) Jorge Filmus et al. MATRIX BIOLOGY
- A patient with a unique frameshift mutation inGPC3, causing Simpson-Golabi-Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle
- (2013) Diana D. Villarreal et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Simpson-Golabi-Behmel Syndrome Type 1 and Hepatoblastoma in a Patient With a Novel Exon 2-4 Duplication of theGPC3Gene
- (2013) María Elena Mateos et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- A patient with Simpson-Golabi-Behmel syndrome, biliary cirrhosis and successful liver transplantation
- (2013) Guillaume Jedraszak et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: The diagnostic value of rib malformations and index nail and finger hypoplasia
- (2012) Livia Garavelli et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Metastatic medulloblastoma in an adolescent with Simpson-Golabi-Behmel syndrome
- (2012) Martha Thomas et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome
- (2012) Chih-Ping Chen Taiwanese Journal of Obstetrics & Gynecology
- A 1Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson–Golabi–Behmel syndrome
- (2011) Jan Weichert et al. European Journal of Medical Genetics
- Simpson-Golabi-Behmel Syndrome Associated With Cleft Palate
- (2011) Yoshihiro Morita et al. JOURNAL OF CRANIOFACIAL SURGERY
- Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome
- (2010) John Waterson et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Dally-like core protein and its mammalian homologues mediate stimulatory and inhibitory effects on Hedgehog signal response
- (2010) E. H. Williams et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Genital anomalies in three male siblings with Simpson-Golabi-Behmel syndrome
- (2009) Christopher B. Griffith et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Increased Nuchal Translucency and Other Ultrasound Findings in a Case of Simpson-Golabi-Behmel Syndrome
- (2009) Chumei C. Li et al. FETAL DIAGNOSIS AND THERAPY
- New airway and swallow manifestations of Simpson–Golabi–Behmel syndrome
- (2009) Emma Glamuzina et al. INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
- Carotid artery dissection in an adult with the Simpson–Golabi–Behmel syndrome
- (2008) Isabelle Pénisson-Besnier et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Glypican-3 Inhibits Hedgehog Signaling during Development by Competing with Patched for Hedgehog Binding
- (2008) Mariana I. Capurro et al. DEVELOPMENTAL CELL
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